Tracheobronchial Tree
The most significant abnormality in Campomelic Dysplasia is the lack of development of the cartilage rings supporting the trancheobronchial tree. These cartilage rings normally keep the breathing passages open. Poor cartilage development may cause the collapse of these passages, producing extremely small airways, 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
Genitourinary Tract: Hydronephrosis (enlarged kidney), bilateral ureteral dilatation are seen in 1/3rd 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.
Sex Reversal
Some phenotypic females may genetically be males.
Hearing
Recurrent middle ear infections, poor development of bones that normally conduct sound (auditory ossicles) and abnormal 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.