Campomelic dysplasia is one of the rarer forms of short-limb dwarfism. It was first described by Pierre Maroteaux, MD, in 1971. It occurs in approximately one in 111,000–200,000 live births. The term "campomelic" or "camptomelic" is of Greek origin and it means "bent limb."
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Campomelic dysplasia is typically caused by a mutation in the SOX9 gene, which is located on chromosome 17q. Less frequently, a disruption of chromosome 17q may involve the SOX9 region and result in campomelic dysplasia. SOX9 is an important regulator of cartilage and sexual development.
Campomelic dysplasia is characterized by the bowing of the femur and tibia. Some individuals can have this condition without any appreciable bowing of the long bones but with other major features. These patients are referred to as having "acampomelic" camptomelic dysplasia. We will limit the following discussion to patients with classic campomelic dysplasia.
Campomelic dysplasia can be a life-limiting condition. In severe presentations, survival is sometimes possible with life-sustaining interventions. However, some children with campomelic dysplasia can survive into adulthood without the need for those interventions. In the newborn period, respiratory distress may occur due to the lack of development of the cartilage rings that support the tracheobronchial tree. Although respiratory insufficiency may lead to hypoxic brain injury, in general patients with campomelic dysplasia have typical intelligence.
Long bone bowing in campomelic dysplasia is variable. Corrective osteotomies of the femur and tibia should be performed so that the child can start standing and walking at the appropriate times. The timing of such surgery is influenced by the child’s respiratory status. Developmental milestones are delayed in campomelic dysplasia and this should be kept in mind during decision making. A period of casting is necessary in the immediate post-operative period, followed by long-term bracing to maintain correction.
Congenital/developmental hip dislocations are typically managed along standard lines. In infancy, the mainstay of treatment is by means of a Pavlik harness. If this fails, surgery becomes necessary.
Cervical kyphosis is an initial problem, secondary to failure of formation of the anterior cervical vertebral bodies, which can lead to spinal cord compression. Thoracic kyphoscoliosis is a severe problem that may require surgery.
Clubfeet should be treated along standard lines with corrective casting and surgery, depending upon the severity of the problem.
The most significant abnormality in campomelic dysplasia is the lack of development of the cartilage rings supporting the tracheobronchial tree. These cartilage rings normally keep the breathing passages open. Poor cartilage development may cause the collapse of these passages, producing extremely small airways and causing respiratory insufficiency.
An echocardiogram should be done to evaluate for possible congenital heart disease.
Genitourinary Tract: Hydronephrosis (enlarged kidney), bilateral ureteral dilatation are seen in a third of patients. Hypoplastic cystic kidney, renal hypoplasia, ureteral stenosis, and renal calculi have been described in the literature. These do not pose major health risks initially but require monitoring by a nephrologist/urologist in the long term.
In some cases the lack of functioning SOX9 may lead to the failure of male genitalia. Therefore, some phenotypic females may genetically be males.
Recurrent middle ear infections, poor development of bones that normally conduct sound (auditory ossicles), and atypical skull shape are some of the factors that contribute to hearing loss. Any suspicion of hearing loss or recurrent ear infections should prompt referral to an ENT surgeon/audiologist for further investigation.
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