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.
MONDO:0019694
spondylodysplastic dysplasia
is_a
MONDO:0020119
X-linked syndromic intellectual disability
is_a
Christian syndrome
exact
MRSD
related
intellectual disability skeletal dysplasia abducens palsy
related
intellectual disability, skeletal dysplasia, and abducens palsy
related
mental retardation skeletal dysplasia abducens palsy
related
mental retardation, skeletal dysplasia, and abducens palsy
related
mental retardation-skeletal dysplasia
exact