Camp(t)omelic dysplasia (CD) is an autosomal dominantly inherited disorder of the SOX9 gene (17p24.3-q25.1), caused by de novo mutation or defective chromosomal recombination [1,2,3].
The SOX9 gene encodes a transcription factor that affects chondrogenesis, testicular development and determines phenotypic sex characteristics [4,5]. Pathological findings can be grouped in osseous and non-osseous disorders. Osseous features are the naming bowed femora and tibia (campomel = bent limb; camptomel bowed limb), short stature, vertebral abnormalities with cervical instability and possible cord compression (paraplegia), only eleven rib pairs, facial dysmorphia (Pierre Robin sequence, short neck), cleft palate, progressive scoliosis, club feet and dislocatable hips. Non-osseous features include laryngotracheobronchomalacia with respiratory compromise, ambiguous genitalia with sex reversal (female external genitalia with 46 XY karyotype), congenital heart disease (ventricular septal defect, VSD), hypotonia, kidney malformation (hydronephrosis) and neurological disorders including hydrocephalus and hearing impairment [6,7]. No clinical feature is obligatory. When femora and tibia are not affected, it is termed as acamp(t)omelic camp(t)omelic dysplasia (ACD). The estimated prevalence ranges from 1:10,000 to <1:1,000,000 [8,9]. Because of the rare occurrence of CD, an exact prevalence is uncertain. Currently, only symptomatic therapy is available. Most affected patients die in the neonatal period due to respiratory insufficiency . Operative treatment is performed if individuals reach infancy.