Campomelic dysplasia

Campomelic dysplasia is a rare genetic disorder. It affects the development of the skeleton, reproductive system, and face. Symptoms of campomelic dysplasia may include bowing of the legs, dislocated hips, small lungs and chest, and external genitalia that do not look clearly male or clearly female (ambiguous genitalia). In addition, infants with campomelic dysplasia have distinctive facial features including a small chin with cleft palate, prominent eyes, flat face, and a large head. Many infants die at an early age due to breathing problems. Campomelic dysplasia usually results from a new genetic change (DNA variant) in or the near the SOX9 gene. Diagnosis is based on physical findings and x-ray (radiograph) findings and may be confirmed by genetic testing. Treatment is aimed at preventing and/or managing the known symptoms and complications associated with this condition.

Symptoms

The following list includes the most common signs and symptoms in people with campomelic dysplasia. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

List of signs and symptoms

• Large head (macrocephaly)
• Short, bowed limbs
• Dislocated hips
• 11 pairs of ribs instead of 12
• Small chest and lungs
• Club feet
• Abnormally formed shoulder blades
• Distinctive facial features, including small chin, prominent eyes, and a flat face
• Cleft palate with a small lower jaw (Pierre-Robin sequence)
• External genitalia that do not look male or female (ambiguous genitalia) or normal female genitalia with a typical male chromosome pattern (46,XY)
• Weakened cartilage of the upper respiratory tract (laryngotracheomalacia)
• Many babies with campomelic dysplasia die early in infancy due to trouble breathing. People who survive may develop an abnormal curvature of the spine (scoliosis) and spine abnormalities such as anomalies of the neck bones, which compress the spinal cord, as they age. Adults with campomelic dysplasia may also have short stature and hearing loss.

Some people with features of this genetic disorder may not have bowed limbs and are said to have acampomelic campomelic dysplasia.

80%-99% of people have these symptoms

• 11 pairs of ribs
• Fibular hypoplasia
• Flat face
• Hip dislocation
• Hypoplastic inferior ilia
• Laryngomalacia
• Macrocephaly
• Micrognathia
• Narrow chest
• Low chest
• Recurrent fractures
• Respiratory insufficiency
• Scoliosis
• Short neck
• Decreased length of neck
• Small abnormally formed scapulae
• Tibial bowing
• Tracheobronchomalacia
• 30%-79% of people have these symptoms
• Ambiguous genitalia
• Femoral bowing
• Hypertelorism
• Low-set ears
• Male pseudohermaphroditism
• Proptosis
• Short stature
• Skin dimple
• Talipes equinovarus
• Club feet

5%-29% of people have these symptoms

• Abnormality of cardiovascular system morphology
• Abnormality of the sense of smell
• Depressed nasal bridge
• Hearing impairment
• Hydronephrosis
• Hypoplasia of olfactory tract
• Kyphosis
• Hunched back
• Ventriculomegaly

Cause

Campomelic dysplasia is caused by genetic changes (DNA variants) or rarely, chromosome rearrangements near or in the SOX9 gene

Inheritance

Campomelic dysplasia is inherited in an autosomal dominant pattern. Most cases result from new (de novo) DNA variants in or near the SOX9 gene and occur in people with no history of the genetic disorder in their family.

All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition.

Each child of an individual carrying an autosomal dominant gene variant has a 50% or 1 in 2 chance of inheriting the variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition

Treatment

There is no specific treatment for campomelic dysplasia. Treatment is aimed at preventing and/or managing the known symptoms and complications associated with this condition. For example, orthopedic care and surgery may be needed to manage an unstable spine, clubfeet, and hip abnormalities. Surgery may also be indicated for a cleft palate if present.

Specialists who may be involved in the care of someone with campomelic dysplasia include:

• Medical geneticist
• Orthopedist/Orthopedic surgeon
• Craniofacial surgeon
• Endocrinologist
• Audiologist

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Classification	OMIM: 114290 MeSH: D055036 DiseasesDB: 33419
External resources	Orphanet: 140

• GeneReviews/NCBI/NIH/UW entry on Campomelic Dysplasia