Campomelic Dysplasia (CMPD)

Campomelic Dysplasia, also known as acampomelic campomelic dysplasia, is related to campomelic dysplasia and related disorders and 46,xx sex reversal 1, and has symptoms including apnea and respiratory distress. An important gene associated with Campomelic Dysplasia is SOX9 (SRY-Box Transcription Factor 9), and among its related pathways/superpathways are Neural crest differentiation and Oligodendrocyte specification and differentiation, leading to myelin components for CNS. The drugs Coal tar and Date Palm have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related phenotypes are macrocephaly and scoliosis