autosomal recessive multiple pterygium syndrome
A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0017415
multiple pterygium syndrome
is_a
EVMPS
exact
Escobar syndrome
exact
Escobar variant multiple pterygium syndrome
exact
autosomal recessive multiple pterygium syndrome
exact
autosomal recessive non-lethal multiple pterygium syndrome
exact
multiple pterygium syndrome
related
multiple pterygium syndrome Escobar type
related
multiple pterygium syndrome nonlethal type
related
multiple pterygium syndrome, ESCOBAR variant
related
multiple pterygium syndrome, autosomal recessive
exact
pterygium colli syndrome
related
pterygium syndrome
related
pterygium universale
related
SPAC4A8.05c SPCC645.05c