Achondroplasia - Clinicals, Diagnosis, and Management

Genetic & Congenital disorders

Clinicals - History

Fact Explanation
Short stature Achondroplasia (ACH) is the most frequent form of short-limbed dwarfism, caused by mutations in the FGFR3 gene. It follows an autosomal dominant inheritance, though most cases are sporadic. .Individuals with achondroplasia have short stature caused by rhizomelic shortening of the limbs. Average adult height for men with achondroplasia is 131±5.6 cm; for women, 124±5.9 cm.. The age at diagnosis of the disease was markedly skewed towards birth. And about 94% diagnosed by 1 year of age. The mean age at diagnosis was 0.306 years and the oldest ages at diagnosis were at 7 and 8 years.. Short stature
Achondroplasia (ACH) is the most frequent form of short-limbed dwarfism, caused by mutations in the FGFR3 gene. It follows an autosomal dominant inheritance, though most cases are sporadic. .Individuals with achondroplasia have short stature caused by rhizomelic shortening of the limbs. Average adult height for men with achondroplasia is 131±5.6 cm; for women, 124±5.9 cm.. The age at diagnosis of the disease was markedly skewed towards birth. And about 94% diagnosed by 1 year of age. The mean age at diagnosis was 0.306 years and the oldest ages at diagnosis were at 7 and 8 years..
Delayed motor milestones In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence usually near normal.. Delayed motor milestones
In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence usually near normal..
Obesity Excessive weight gain is manifest in early childhood. In adults, obesity can aggravate the morbidity associated with lumbar stenosis and contribute to nonspecific joint problems and possibly to early mortality from cardiovascular complications.. Obesity
Excessive weight gain is manifest in early childhood. In adults, obesity can aggravate the morbidity associated with lumbar stenosis and contribute to nonspecific joint problems and possibly to early mortality from cardiovascular complications..
Obstructive sleep apnea Obstructive sleep apnea, common in both older children and adults. Arises because of a combination of midfacial retrusion resulting in smaller airway size ,hypertrophy of the lymphatic ring and, perhaps, abnormal innervation of the airway musculature.. Obstructive sleep apnea
Obstructive sleep apnea, common in both older children and adults. Arises because of a combination of midfacial retrusion resulting in smaller airway size ,hypertrophy of the lymphatic ring and, perhaps, abnormal innervation of the airway musculature..
Otitis media and Hearing impairment Middle ear dysfunction is frequently a problem.which, if inadequately treated, can result in hearing loss of sufficient severity to interfere with language development..Otitis media has been long recognised as a complication in achondroplasia. But there is few published data on the incidence of this problem. The cause of hearing loss in patients with achondroplasia is most often conductive but the rate of sensorineural impairment may also be increased.Multiple infections and
chronic OM had their maximal impact during the first three years, although chronic disease continues to be a factor for a significant minority of patients, even beyond the age of ten..
Otitis media and Hearing impairment
Middle ear dysfunction is frequently a problem.which, if inadequately treated, can result in hearing loss of sufficient severity to interfere with language development..Otitis media has been long recognised as a complication in achondroplasia. But there is few published data on the incidence of this problem. The cause of hearing loss in patients with achondroplasia is most often conductive but the rate of sensorineural impairment may also be increased.Multiple infections and
chronic OM had their maximal impact during the first three years, although chronic disease continues to be a factor for a significant minority of patients, even beyond the age of ten..
Speech delay Delay in the acquisition of speech is a recognized complication in achondroplasia. In some reviews it appears that about 20% of children with achondroplasia are delayed in acquiring speech and that, the vast majority are noted between the ages of 2 and 5 years. Emphasis is placed upon ruling out conductive hearing loss as a cause. And also tongue thrust, resulting from the abnormal maxillomandibular relationship can be a component of this delay, and presumably also for articulation problems.. Speech delay
Delay in the acquisition of speech is a recognized complication in achondroplasia. In some reviews it appears that about 20% of children with achondroplasia are delayed in acquiring speech and that, the vast majority are noted between the ages of 2 and 5 years. Emphasis is placed upon ruling out conductive hearing loss as a cause. And also tongue thrust, resulting from the abnormal maxillomandibular relationship can be a component of this delay, and presumably also for articulation problems..
Dental malocclusion The dental concern in achondroplasia is for a class III malocclusion because of the disproportionate growth of the cranial base which leads to severe maxillary retrusion and a decreased maxillary vertical height. Furthermore, the teeth may be crowded and a narrow upper jaw may lead to a cross bite. It is recommended that all children with achondroplasia be evaluated for possible orthodontic needs by the age of 5 or 6years. In many cases treatment did not occur until the late teens or early adulthood.. Dental malocclusion
The dental concern in achondroplasia is for a class III malocclusion because of the disproportionate growth of the cranial base which leads to severe maxillary retrusion and a decreased maxillary vertical height. Furthermore, the teeth may be crowded and a narrow upper jaw may lead to a cross bite. It is recommended that all children with achondroplasia be evaluated for possible orthodontic needs by the age of 5 or 6years. In many cases treatment did not occur until the late teens or early adulthood..
Claudication The most common medical complaint in adulthood is symptomatic spinal stenosis involving L1-L4.Symptoms range from intermittent, reversible, exercise-induced claudication to severe, irreversible abnormalities of leg function and of continence.. By the age of 12 years, only about 20% of children were recorded as having leg pain but this had risen to almost 50% by adulthood with most of the increase probably the result of symptomatic
spinal stenosis..
Claudication
The most common medical complaint in adulthood is symptomatic spinal stenosis involving L1-L4.Symptoms range from intermittent, reversible, exercise-induced claudication to severe, irreversible abnormalities of leg function and of continence.. By the age of 12 years, only about 20% of children were recorded as having leg pain but this had risen to almost 50% by adulthood with most of the increase probably the result of symptomatic
spinal stenosis..
Early death The risk appears to be secondary to central apnea associated with damage to respiratory control centers. Some infants with achondroplasia die in the first year of life from complications related to the craniocervical junction. Population-based studies suggest that this excess risk of death may be as high as 7.5%. There was a tenfold increase in heart disease-related mortality between ages 25 and 35 and, overall, life expectancy appeared to be decreased by about ten years.. Early death
The risk appears to be secondary to central apnea associated with damage to respiratory control centers. Some infants with achondroplasia die in the first year of life from complications related to the craniocervical junction. Population-based studies suggest that this excess risk of death may be as high as 7.5%. There was a tenfold increase in heart disease-related mortality between ages 25 and 35 and, overall, life expectancy appeared to be decreased by about ten years..

Clinicals - Examination

Fact Explanation
Macrocephaly and hydrocephalus Affected individuals has a large head. True megalencephaly occurs in individuals with achondroplasia and most children with achondroplasia are macrocephalic. Hydrocephalus requiring treatment, which probably occurs is about 5% or fewer..When hydrocephalus does occur, it is almost always communicating and may relate to venous outflow at the cranial foramen or at the cervicothoracic
junction. The diagnosis of hydrocephalus in achondroplasia is not trivial given the background macrocrania and ventriculomegaly, but there appears to be a consensus that careful monitoring of head circumference and development, including gait, against the published norms for achondroplasia will distinguish patients with symptomatic hydrocephalus.. Intelligence is normal unless hydrocephalus or other central nervous system complications occur..
Macrocephaly and hydrocephalus
Affected individuals has a large head. True megalencephaly occurs in individuals with achondroplasia and most children with achondroplasia are macrocephalic. Hydrocephalus requiring treatment, which probably occurs is about 5% or fewer..When hydrocephalus does occur, it is almost always communicating and may relate to venous outflow at the cranial foramen or at the cervicothoracic
junction. The diagnosis of hydrocephalus in achondroplasia is not trivial given the background macrocrania and ventriculomegaly, but there appears to be a consensus that careful monitoring of head circumference and development, including gait, against the published norms for achondroplasia will distinguish patients with symptomatic hydrocephalus.. Intelligence is normal unless hydrocephalus or other central nervous system complications occur..
Characteristic face Characteristic facial features with frontal bossing and midface retrusion (formerly known as midface hypoplasia) can be seen..Midface hypoplasia and skull base deformities in achondroplasia occurs due to abnormal ossification. . Characteristic face
Characteristic facial features with frontal bossing and midface retrusion (formerly known as midface hypoplasia) can be seen..Midface hypoplasia and skull base deformities in achondroplasia occurs due to abnormal ossification. .
Hand and leg deformity Genu varum, brachydactyly, and trident appearance of the hands can be seen. Short fingers, Excess mobility of the knees, hips, and most other joints is common. Limitation of elbow extension also recognized.. Hand and leg deformity
Genu varum, brachydactyly, and trident appearance of the hands can be seen. Short fingers, Excess mobility of the knees, hips, and most other joints is common. Limitation of elbow extension also recognized..
Hypotonia Hypotonia is frequently observed in the infant and young child with achondroplasia. The precise cause remains unclear. It was suggested that hyperextension type injuries with spinal cord damage might occur during delivery. A second hypothesis is that impairments in the craniocervical junction anatomy, in particular the narrow foramen magnum, constrict long tracts of the spinal cord, resulting in impaired signaling. But later found no correlation between the severity of hypotonia in infants with achondroplasia and the size of the foramen magnum. They hypothesized that the altered FGFR3 gene, expressed in the brain and nerve cells, caused a primary “brain-based” hypotonia. This hypotonia is thought to be a contributing factor to the delays reported in gross motor development for this group,. Hypotonia
Hypotonia is frequently observed in the infant and young child with achondroplasia. The precise cause remains unclear. It was suggested that hyperextension type injuries with spinal cord damage might occur during delivery. A second hypothesis is that impairments in the craniocervical junction anatomy, in particular the narrow foramen magnum, constrict long tracts of the spinal cord, resulting in impaired signaling. But later found no correlation between the severity of hypotonia in infants with achondroplasia and the size of the foramen magnum. They hypothesized that the altered FGFR3 gene, expressed in the brain and nerve cells, caused a primary “brain-based” hypotonia. This hypotonia is thought to be a contributing factor to the delays reported in gross motor development for this group,.
Difficulty in head control Infants have difficulty in supporting their heads because of both hypotonia and large head size.. Difficulty in head control
Infants have difficulty in supporting their heads because of both hypotonia and large head size..
Bowing of the legs Bowing of the lower legs is exceedingly common in those with achondroplasia.More than 90% of untreated adults have some degree of bowing. ‘Bowing’ is actually a complex deformity arising from a combination of lateral bowing, internal tibial torsion and dynamic instability of the knee.. Tibial bowing is believed to be secondary to the relative overgrowth of the fibula as compared to the tibia,and it is considered clinically significant when the ankle +/- knee fall outside a plumbline dropped from the hip.Tibial bowing is generally not recorded until after the child begins to walk and while the incidence appears to continue to
rise into adulthood it seems likely that this represents a degree of under recording at younger ages and thus late recognition..
Bowing of the legs
Bowing of the lower legs is exceedingly common in those with achondroplasia.More than 90% of untreated adults have some degree of bowing. ‘Bowing’ is actually a complex deformity arising from a combination of lateral bowing, internal tibial torsion and dynamic instability of the knee.. Tibial bowing is believed to be secondary to the relative overgrowth of the fibula as compared to the tibia,and it is considered clinically significant when the ankle +/- knee fall outside a plumbline dropped from the hip.Tibial bowing is generally not recorded until after the child begins to walk and while the incidence appears to continue to
rise into adulthood it seems likely that this represents a degree of under recording at younger ages and thus late recognition..
Kyposis Kyphosis at the thoracolumbar junction is present in 90%-95% of infants with achondroplasia.In about 10% it does not spontaneously resolve and can result in serious neurologic sequelae. Preventive strategies may reduce the need for surgical intervention..Many infants with ACH develop a thoracolumbar kyphosis during the first year of life due to unsupported sitting before there is adequate trunk muscle strength.. Kyposis
Kyphosis at the thoracolumbar junction is present in 90%-95% of infants with achondroplasia.In about 10% it does not spontaneously resolve and can result in serious neurologic sequelae. Preventive strategies may reduce the need for surgical intervention..Many infants with ACH develop a thoracolumbar kyphosis during the first year of life due to unsupported sitting before there is adequate trunk muscle strength..
Upper segment and lower segment length disproportion In children with Achondroplasia, growth of the proximal part of the extremities is predominantly compromised in contrast to the only marginally affected growth of the trunk.. The mean sitting height for achondroplasia is similar or slightly reduced, when compared with average statured person of similar age. Since standing height and sitting height were strongly correlate and because sitting height seemed the better anthropometric in account of the disproportionate short limbs in achondroplasia.. Upper segment and lower segment length disproportion
In children with Achondroplasia, growth of the proximal part of the extremities is predominantly compromised in contrast to the only marginally affected growth of the trunk.. The mean sitting height for achondroplasia is similar or slightly reduced, when compared with average statured person of similar age. Since standing height and sitting height were strongly correlate and because sitting height seemed the better anthropometric in account of the disproportionate short limbs in achondroplasia..
Cephalo pelvic disproportion (CPD) A complication in Delivery. When the pregnant woman is of average stature and the fetus has achondroplasia there is a risk of CPD. And Pregnant women with achondroplasia also have a risk of CPD due to small size of the pelvis.. Cephalo pelvic disproportion (CPD)
A complication in Delivery. When the pregnant woman is of average stature and the fetus has achondroplasia there is a risk of CPD. And Pregnant women with achondroplasia also have a risk of CPD due to small size of the pelvis..

Investigations - Diagnosis

Fact Explanation
Frequent assessment of growth parameters Documentation of length, weight, and head circumference and compared with achondroplasia specific growth standards should be carried out.. Frequent assessment of growth parameters
Documentation of length, weight, and head circumference and compared with achondroplasia specific growth standards should be carried out..
X ray series The radiographic findings of achondroplasia in children include
Short, robust tubular bones,Narrowing of the interpediculate distance of the caudal spine,Rounded ilia and horizontal acetabula,Narrow sacrosciatic notch ,Proximal femoral radiolucency , and Mild, generalized metaphyseal changes..
X ray series
The radiographic findings of achondroplasia in children include
Short, robust tubular bones,Narrowing of the interpediculate distance of the caudal spine,Rounded ilia and horizontal acetabula,Narrow sacrosciatic notch ,Proximal femoral radiolucency , and Mild, generalized metaphyseal changes..
CT (computer tomography) Assessment of the craniocervical junction including neurologic history and examination, computerized tomography of the craniocervical junction, and polysomnography. Baseline computerized tomography of the brain also can be carried out.. CT (computer tomography)
Assessment of the craniocervical junction including neurologic history and examination, computerized tomography of the craniocervical junction, and polysomnography. Baseline computerized tomography of the brain also can be carried out..
Molecular genetic testing In individuals in whom there is diagnostic uncertainty or atypical findings, molecular genetic testing can be used to detect a mutation in FGFR3, the only gene known to be associated with achondroplasia. Such testing detects mutations in 99% of affected individuals. An individual with typical clinical and radiographic findings of achondroplasia does not generally need molecular confirmation of the diagnosis. In those in whom there is any uncertainty ,Targeted mutation analysis for the two common mutations should be pursued first. Sequence analysis can be performed when the suspicion of achondroplasia based on clinical and radiographic grounds is high and targeted mutation analysis for the two common mutations is negative.. Molecular genetic testing
In individuals in whom there is diagnostic uncertainty or atypical findings, molecular genetic testing can be used to detect a mutation in FGFR3, the only gene known to be associated with achondroplasia. Such testing detects mutations in 99% of affected individuals. An individual with typical clinical and radiographic findings of achondroplasia does not generally need molecular confirmation of the diagnosis. In those in whom there is any uncertainty ,Targeted mutation analysis for the two common mutations should be pursued first. Sequence analysis can be performed when the suspicion of achondroplasia based on clinical and radiographic grounds is high and targeted mutation analysis for the two common mutations is negative..
Chorionic villus sampling (CVS) A high-risk pregnancy is one in which one or both parents have achondroplasia. Prenatal diagnosis for high-risk pregnancies is possible with analysis of DNA from fetal cells obtained by amniocentesis usually performed at 15 to 18 weeks gestation or chorionic villus sampling (CVS) at about ten to 12 weeks' gestation. The disease-causing allele in the affected parent or parents must be identified before prenatal testing can be performed.. Chorionic villus sampling (CVS)
A high-risk pregnancy is one in which one or both parents have achondroplasia. Prenatal diagnosis for high-risk pregnancies is possible with analysis of DNA from fetal cells obtained by amniocentesis usually performed at 15 to 18 weeks gestation or chorionic villus sampling (CVS) at about ten to 12 weeks' gestation. The disease-causing allele in the affected parent or parents must be identified before prenatal testing can be performed..
USS in pregnancy In Low-risk pregnancy. Routine prenatal ultrasound examination may identify short fetal limbs and raise the possibility of achondroplasia in a fetus not known to be at increased risk.. USS in pregnancy
In Low-risk pregnancy. Routine prenatal ultrasound examination may identify short fetal limbs and raise the possibility of achondroplasia in a fetus not known to be at increased risk..

Investigations - Management

Fact Explanation
Measurement of head circumference Monitoring of head circumference using growth curves standardized for achondroplasia throughout childhood to identify head growth and risk for hydrocephalus. Complete baseline CT scan (or MRI) of the brain in infancy also helpful.. Measurement of head circumference
Monitoring of head circumference using growth curves standardized for achondroplasia throughout childhood to identify head growth and risk for hydrocephalus. Complete baseline CT scan (or MRI) of the brain in infancy also helpful..
Frequent monitoring of growth and development Monitor height and weight at each physician contact using growth curves standardized for achondroplasia. Screening of developmental milestones throughout infancy and early childhood should be performed and compared with those specific for achondroplasia.. Frequent monitoring of growth and development
Monitor height and weight at each physician contact using growth curves standardized for achondroplasia. Screening of developmental milestones throughout infancy and early childhood should be performed and compared with those specific for achondroplasia..
Physical and neurological assessment Clinical assessment for development of bowing and/or internal tibial torsion should be part of each physical assessment. Because adults with achondroplasia are at increased risk for spinal stenosis, a clinical history and neurologic examination is warranted every three to five years once the person with achondroplasia reaches adulthood. Neurologic examination including for signs of cervical myelopathy should be incorporated into each physical examination in infancy and childhood.. Physical and neurological assessment
Clinical assessment for development of bowing and/or internal tibial torsion should be part of each physical assessment. Because adults with achondroplasia are at increased risk for spinal stenosis, a clinical history and neurologic examination is warranted every three to five years once the person with achondroplasia reaches adulthood. Neurologic examination including for signs of cervical myelopathy should be incorporated into each physical examination in infancy and childhood..
Tympanometric and behavioral audiometric evaluation In addition to newborn screening, each infant should have tympanometric and behavioral audiometric evaluation by age approximately one year. Evidence for middle ear problems or hearing loss should be sought throughout childhood.. Tympanometric and behavioral audiometric evaluation
In addition to newborn screening, each infant should have tympanometric and behavioral audiometric evaluation by age approximately one year. Evidence for middle ear problems or hearing loss should be sought throughout childhood..
Polysomnography Overnight polysomnography should also be completed in infancy and interpreted with consideration of features important in assessing the craniocervical junction. Inquiry should be made regarding signs and symptoms of sleep apnea. If worrisome nighttime or daytime features arise, then polysomnography should be completed.. Polysomnography
Overnight polysomnography should also be completed in infancy and interpreted with consideration of features important in assessing the craniocervical junction. Inquiry should be made regarding signs and symptoms of sleep apnea. If worrisome nighttime or daytime features arise, then polysomnography should be completed..
Clinical assessment of the spine The spine of the infant and child should be clinically assessed every six months until age three years. If severe kyphosis appears to be developing, radiologic assessment is needed (lateral in sitting or standing, depending on age, and lateral cross-table prone or cross-table supine over a bolster).. Clinical assessment of the spine
The spine of the infant and child should be clinically assessed every six months until age three years. If severe kyphosis appears to be developing, radiologic assessment is needed (lateral in sitting or standing, depending on age, and lateral cross-table prone or cross-table supine over a bolster)..
CT scan (or MRI) of the craniocervical junction Every infant should have a CT scan (or MRI) of the craniocervical junction in infancy, with comparison of foramen magnum size to diagnostic-specific standards.. CT scan (or MRI) of the craniocervical junction
Every infant should have a CT scan (or MRI) of the craniocervical junction in infancy, with comparison of foramen magnum size to diagnostic-specific standards..

Management - Supportive

Fact Explanation
Growth hormone (GH) therapy A number of studies have assessed growth hormone (GH) therapy as a possible treatment for the short stature of achondroplasia. .Studies showed that after GH treatment, children with ACH improved height without any adverse effect on trunk leg disproportion.It has been reported that GH therapy may result in some increase in growth rate; however, the effects diminish with continued treatment. In Japan, GH therapy in ACH is popular, although in Europe and USA, it is presently not recommended.. Growth hormone (GH) therapy
A number of studies have assessed growth hormone (GH) therapy as a possible treatment for the short stature of achondroplasia. .Studies showed that after GH treatment, children with ACH improved height without any adverse effect on trunk leg disproportion.It has been reported that GH therapy may result in some increase in growth rate; however, the effects diminish with continued treatment. In Japan, GH therapy in ACH is popular, although in Europe and USA, it is presently not recommended..
Extended limb lengthening using various techniques Extended limb lengthening using various techniques remains an option for some. Increases in height of up to 12-14 inches may be obtained. . Limb lengthening surgical procedures such as monofocal and bifocal callotasis, femur, tibial, and humeral lengthening for short stature may be offered after puberty. It can result in substantial increase in height; however, there is a risk of complication, and it is a costly and invasive procedure requiring long periods of hospital stay.. Although some have advocated performing these procedures as early as ages six to eight years, many pediatricians, medical geneticists, and ethicists have advocated postponing such surgery until the young person is able to participate in making an informed decision.. Extended limb lengthening using various techniques
Extended limb lengthening using various techniques remains an option for some. Increases in height of up to 12-14 inches may be obtained. . Limb lengthening surgical procedures such as monofocal and bifocal callotasis, femur, tibial, and humeral lengthening for short stature may be offered after puberty. It can result in substantial increase in height; however, there is a risk of complication, and it is a costly and invasive procedure requiring long periods of hospital stay.. Although some have advocated performing these procedures as early as ages six to eight years, many pediatricians, medical geneticists, and ethicists have advocated postponing such surgery until the young person is able to participate in making an informed decision..
Prevent development of obesity Measures to avoid obesity should start in early childhood. Note that the body mass index has not been standardized for individuals with achondroplasia and will yield misleading results; thus, body mass index should not be used in this population until normal ranges are established..Nutritional counseling (such as smaller meal portion sizes), should be implemented early to help reduce the later effects of obesity in adult life. The inclusion of appropriately selected forms of exercise is also necessary for maintenance of a healthy weight range and increased social inclusion. Current recommendations are that children with achondroplasia stay within one standard deviation of the average height–weight curve on the achondroplasia-specific height–weight charts.. Prevent development of obesity
Measures to avoid obesity should start in early childhood. Note that the body mass index has not been standardized for individuals with achondroplasia and will yield misleading results; thus, body mass index should not be used in this population until normal ranges are established..Nutritional counseling (such as smaller meal portion sizes), should be implemented early to help reduce the later effects of obesity in adult life. The inclusion of appropriately selected forms of exercise is also necessary for maintenance of a healthy weight range and increased social inclusion. Current recommendations are that children with achondroplasia stay within one standard deviation of the average height–weight curve on the achondroplasia-specific height–weight charts..
Prevent frequent middle ear infection Routine management of frequent middle-ear infections, persistent middle-ear fluid, and consequent hearing loss should be undertaken as needed. Speech evaluation by age two years should be undertaken if any concerns arise on screening.. Prevent frequent middle ear infection
Routine management of frequent middle-ear infections, persistent middle-ear fluid, and consequent hearing loss should be undertaken as needed. Speech evaluation by age two years should be undertaken if any concerns arise on screening..
Avoid risk behaviors Particularly in childhood, care must be taken to limit risk for injury to the spinal cord at the craniocervical junction. This should include proscription of activities including collision sports (e.g. football, ice hockey, rugby), use of a trampoline, diving from diving boards, vaulting in gymnastics, and hanging upside down from knees or feet on playground equipment.. Avoid risk behaviors
Particularly in childhood, care must be taken to limit risk for injury to the spinal cord at the craniocervical junction. This should include proscription of activities including collision sports (e.g. football, ice hockey, rugby), use of a trampoline, diving from diving boards, vaulting in gymnastics, and hanging upside down from knees or feet on playground equipment..
Adenotonsillectomy or Continuous positive airway pressure Treatment for obstructive sleep apnea may include Adenotosillectomy,weight reduction,continous positive airway pressure and Tracheostomy for extreme cases. Improvement in disturbed sleep and some improvement in neurologic function can result from these interventionIn rare instances in which the obstruction is severe enough to require tracheostomy, surgical intervention to advance the midface has been used to alleviate upper airway obstruction.. Adenotonsillectomy or Continuous positive airway pressure
Treatment for obstructive sleep apnea may include Adenotosillectomy,weight reduction,continous positive airway pressure and Tracheostomy for extreme cases. Improvement in disturbed sleep and some improvement in neurologic function can result from these interventionIn rare instances in which the obstruction is severe enough to require tracheostomy, surgical intervention to advance the midface has been used to alleviate upper airway obstruction..
Referral to an orthopedist Presence of progressive, symptomatic bowing should prompt referral to an orthopedist. Various interventions may be elected (eg: valgus-producing and derotational osteotomies, guided growth using 8-plates)..Pediatric orthopedic consultion is recommended between the age of 1 and 5 years. The child's hips need to be checked for external rotation and hip-flexion contractures. If necessary, a pediatric orthopedist may prescribe exercises that help decrease lumbar lordosis and hip-flexion contractures.. Referral to an orthopedist
Presence of progressive, symptomatic bowing should prompt referral to an orthopedist. Various interventions may be elected (eg: valgus-producing and derotational osteotomies, guided growth using 8-plates)..Pediatric orthopedic consultion is recommended between the age of 1 and 5 years. The child's hips need to be checked for external rotation and hip-flexion contractures. If necessary, a pediatric orthopedist may prescribe exercises that help decrease lumbar lordosis and hip-flexion contractures..
VP shunt If increased intracranial pressure arises, referral to a neurosurgeon is needed. Because of the presumed mechanism giving rise to hydrocephalus in this population, probably ventriculoperitoneal shunting,(VP shunt) rather than third ventriculostomy, is appropriate.. VP shunt
If increased intracranial pressure arises, referral to a neurosurgeon is needed. Because of the presumed mechanism giving rise to hydrocephalus in this population, probably ventriculoperitoneal shunting,(VP shunt) rather than third ventriculostomy, is appropriate..
Using Cesarian section as a delivery method Cephalo-pelvic disproportion may necessitate delivery by Caesarian section when the pregnant woman is of average stature and the fetus has achondroplasia. Pregnant women with achondroplasia must always be delivered by Caesarian section because of the small size of the pelvis.. Using Cesarian section as a delivery method
Cephalo-pelvic disproportion may necessitate delivery by Caesarian section when the pregnant woman is of average stature and the fetus has achondroplasia. Pregnant women with achondroplasia must always be delivered by Caesarian section because of the small size of the pelvis..
Socialization Because of the highly visible nature of the short stature associated with achondroplasia, affected persons and their families may encounter difficulties in socialization and school adjustment. Support groups , such as the Little People of America, Inc (LPA), can assist families with these issues through peer support, personal example, and social awareness programs. Information on employment, education, disability rights, adoption of children with short stature, medical issues, suitable clothing, adaptive devices, and parenting is available through a national newsletter, seminars, and workshops.. Socialization
Because of the highly visible nature of the short stature associated with achondroplasia, affected persons and their families may encounter difficulties in socialization and school adjustment. Support groups , such as the Little People of America, Inc (LPA), can assist families with these issues through peer support, personal example, and social awareness programs. Information on employment, education, disability rights, adoption of children with short stature, medical issues, suitable clothing, adaptive devices, and parenting is available through a national newsletter, seminars, and workshops..
Reassurance Parents should reassure that most individuals with achondroplasia are of normal intelligence and are able to lead independent and productive lives. Their Intelligence is normal unless hydrocephalus or other central nervous system complications occur.. Reassurance
Parents should reassure that most individuals with achondroplasia are of normal intelligence and are able to lead independent and productive lives. Their Intelligence is normal unless hydrocephalus or other central nervous system complications occur..

Management - Specific

Fact Explanation
Suboccipital decompression The best predictors of need for suboccipital decompression include Lower-limb hyperreflexia or clonus, Central hypopnea demonstrated by polysomnography, Reduced foramen magnum size, determined by CT examination of the craniocervical junction and by comparison with the norms for children with achondroplasia. If there is clear indication of symptomatic compression, urgent referral to a pediatric neurosurgeon for decompression surgery should be initiated.. Suboccipital decompression
The best predictors of need for suboccipital decompression include Lower-limb hyperreflexia or clonus, Central hypopnea demonstrated by polysomnography, Reduced foramen magnum size, determined by CT examination of the craniocervical junction and by comparison with the norms for children with achondroplasia. If there is clear indication of symptomatic compression, urgent referral to a pediatric neurosurgeon for decompression surgery should be initiated..
Laminectomy If severe signs and/or symptoms of spinal stenosis arise, urgent surgical referral is appropriate. Extended and wide laminectomies need to be done as soon as possible.. Laminectomy
If severe signs and/or symptoms of spinal stenosis arise, urgent surgical referral is appropriate. Extended and wide laminectomies need to be done as soon as possible..
Bracing and spinal surgery A protocol to help prevent the development of a fixed, angular kyphosis is available. In children in whom spontaneous remission does not arise after trunk strength increases and the child begins to walk, bracing is usually sufficient to prevent persistence of the thoracolumbar kyphosis. If a severe kyphosis persists, spinal surgery may be necessary to prevent neurological complications.. Bracing and spinal surgery
A protocol to help prevent the development of a fixed, angular kyphosis is available. In children in whom spontaneous remission does not arise after trunk strength increases and the child begins to walk, bracing is usually sufficient to prevent persistence of the thoracolumbar kyphosis. If a severe kyphosis persists, spinal surgery may be necessary to prevent neurological complications..
Genetic counseling Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. Approximately 80% of individuals with achondroplasia have parents with average stature and have achondroplasia as a result of a de novo gene mutation. The risk to offspring of an individual with achondroplasia of inheriting the mutant allele is 50%.When neither parent of a proband with an autosomal dominant condition has clinical evidence of the disorder, it is likely that the proband has a de novo mutation.
The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy. It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected..
Genetic counseling
Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. Approximately 80% of individuals with achondroplasia have parents with average stature and have achondroplasia as a result of a de novo gene mutation. The risk to offspring of an individual with achondroplasia of inheriting the mutant allele is 50%.When neither parent of a proband with an autosomal dominant condition has clinical evidence of the disorder, it is likely that the proband has a de novo mutation.
The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy. It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected..

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