Carpenter's Syndrome presents with a number of malformations.
Inheritance: autosomal recessive
Chromosome: 6p12.1-q12
Gene: RAB23 (Ras associated protein, a member of the guanosine triphosphatase GTPase family of vesicle transport proteins)
Clinical features may include:
(1) craniosynostosis (fusion of the metopic and sagittal sutures)
(2) facial deformity
(3) polysyndactyly of the toes and brachyclinosyndactyly of the fingers
(4) obesity
(5) cardiac malformations
(6) motor delay during infancy
(7) variation in intelligence (ranges from normal in some patients to mental retardation in others)
(8) hypogonadism
(9) molar agenesis
