/skeletal dysplasia-intellectual disability syndrome

skeletal dysplasia-intellectual disability syndrome

Rare Disease

MONDO:0010668

Also Known As

Christian syndromemental retardation-skeletal dysplasiaMRSDX-linked skeletal dysplasia-intellectual disability syndromeintellectual disability skeletal dysplasia abducens palsyintellectual disability, skeletal dysplasia, and abducens palsymental retardation skeletal dysplasia abducens palsymental retardation, skeletal dysplasia, and abducens palsy

Definition

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.