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.
At birth, the child may require a tracheostomy and long-term ventilation at home for the first few years of life. Many do not survive past the neonatal period.
Congenital Heart Defects
Congenital heart defects were found in around 25% of cases. The most common anomaly is a patent ductus arteriosus or patent foramen ovale.
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.