Bartsocas-Papas Syndrome (BPS)

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OMIM 56 263650 KEGG 36 H01931 MeSH 43 D011625 ICD10 via Orphanet 33 Q87.2

UMLS via Orphanet 72 C1849718 Orphanet 58 ORPHA1234 MedGen 41 C1849718 SNOMED-CT via HPO 68 11375002 14582003 193953008 194021007 19754005 199612005 201091002 204108000 21321009 22006008 22033007 228156007 23610003 246957002 247578003 249310005 249769001 250037002 253208007 258211005 268228006 268251006 271611007 289469003 31069005 32113001 32958008 34048007 373413006 398309008 400952003 413921009 422441003 423230008 61142002 63567004 64634000 69914001 80281008 80801001 87979003 91138005 92821006 95202004 95515009 95735008 more

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1234 Definition Bartsocas-Papas syndrome is a rare, inherited , popliteal pterygium syndrome (see this term) 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Bartsocas-Papas Syndrome, also known as popliteal pterygium syndrome, lethal type, is related to chromosome 2q35 duplication syndrome and cleft lip. An important gene associated with Bartsocas-Papas Syndrome is RIPK4 (Receptor Interacting Serine/Threonine Kinase 4), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and NF-kappaB Signaling. Affiliated tissues include bone, skin and eye, and related phenotypes are synostosis of joints and microcephaly

OMIM : ⁵⁶ Bartsocas-Papas syndrome (lethal popliteal pterygium syndrome) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012). A less severe form of popliteal pterygium syndrome (119500) is caused by mutation in the IRF6 gene (607199). (263650)

KEGG : ³⁶ Lethal-type popliteal pterygium syndrome (LPPS), described as an autosomal-recessive form of popliteal pterygium syndrome (PPS) and also known as Bartsocas-Papas syndrome (BPS), is characterized by a more severe phenotype than that associated with the autosomal-dominant form. LPPS is characterised by multiple popliteal pterygia, cutaneous syndactyly, lack of nails, ankyloblepharon, filiform bands between the jaws, hypoplastic external genitalia, cleft lip and/or palate, and fetal or neonatal lethality, although, in the latter case, survival into childhood and beyond has been reported. It has been shown that recessive mutations in RIPK4 cause LPPS.

UniProtKB/Swiss-Prot : ⁷³ Bartsocas-Papas syndrome: An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported.

Wikipedia : ⁷⁴ Multiple pterygium syndrome is a cutaneous condition inherited in an autosomal dominant... more...

Clinical features from OMIM:

263650

Search Clinical Trials , NIH Clinical Center for Bartsocas-Papas Syndrome

Search GEO for disease gene expression data for Bartsocas-Papas Syndrome.