Campomelic dysplasia is a rare genetic disorder that 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.

Signs and symptoms may include:

• 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.

SOX9 gene.

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

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

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

The exact number of people that are born with campomelic dysplasia is unknown. It has been estimated that 1 in 40,000 to 1 in 200,000 people have this condition.