has material basis in germline mutation in RIPK4 Bartsocas-Papas syndrome 1 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/bartsocas_papas_syndrome_1 OMIM:263650 Bartsocas-Papas syndrome popliteal pterygium syndrome, Bartsocas-Papas type Orphanet:1234 UMLS:C1849718 popliteal pterygium syndrome lethal type 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. MEDGEN:337894 autosomal recessive popliteal pterygium syndrome GARD:0004436 lethal popliteal pterygium syndrome MESH:C564874 BPS pterygium, popliteal, lethal type pterygium popliteal lethal type NCIT:C168990 popliteal pterygium syndrome, Bartsocas-Papas type 1 popliteal pterygium syndrome, lethal type MONDO:0009901 SCTID:722376008 multiple pterygium syndrome, Aslan type Bartsocas Papas syndrome popliteal pterygium syndrome ectodermal dysplasia syndrome hereditary lethal multiple congenital anomalies/dysmorphic syndrome