Carpenter syndrome
An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.
MONDO:0000078
acrocephalopolysyndactyly
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
ACPS2
exact
Carpenter 's syndrome
exact
Carpenter syndrome
exact
acrocephalopolysyndactyly type 2
exact
acrocephalopolysyndactyly type II
exact
acrocephalosyndactyly, type II
related
type II Acrocephalopolysyndactyly
exact