Skeletal dysplasia-intellectual disability syndrome

Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.

Also known as: Christian syndrome, mental retardation-skeletal dysplasia, MRSD, X-linked skeletal dysplasia-intellectual disability syndrome, intellectual disability skeletal dysplasia abducens palsy, intellectual disability, skeletal dysplasia, and abducens palsy, mental retardation skeletal dysplasia abducens palsy, mental retardation, skeletal dysplasia, and abducens palsy

63 clinical trials for this condition and its sub-types.