Bartsocas-Papas syndrome 1
A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.
MONDO:0017435
popliteal pterygium syndrome
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MONDO:0019287
ectodermal dysplasia syndrome
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MONDO:0043009
hereditary lethal multiple congenital anomalies/dysmorphic syndrome
is_a
BPS
related
Bartsocas Papas syndrome
exact
Bartsocas-Papas syndrome
exact
autosomal recessive popliteal pterygium syndrome
exact
lethal popliteal pterygium syndrome
exact
popliteal pterygium syndrome lethal type
related
popliteal pterygium syndrome, Bartsocas-Papas type
related
popliteal pterygium syndrome, Bartsocas-Papas type 1
exact
popliteal pterygium syndrome, lethal type
exact
pterygium popliteal lethal type
related