Carpenter syndrome is a rare autosomal recessive multiple malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet. Many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, that regulates vesicular transport, are present in the majority of cases. It has been reported that mutations in MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01888 Carpenter syndrome
