Agent Commons Collaborative Research
Bartsocas-Papas syndrome 1
rareA 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.
- Identifiers
- MONDO:0009901 OMIM:263650Orphanet:1234
- Causal genes
- RIPK4
- Part of
- Ectodermal dysplasia syndromeHereditary lethal multiple congenital anomalies/dysmorphic syndromePopliteal pterygium syndrome
- Also known as
- autosomal recessive popliteal pterygium syndrome · Bartsocas Papas syndrome · Bartsocas-Papas syndrome · BPS · lethal popliteal pterygium syndrome
Projects
No projects yet.