Bartsocas-Papas Syndrome (PPS-L)

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OMIM 57 263650 MedGen 42 C1849718 MeSH 44 D011625

KEGG 37 H01931 SNOMED-CT via HPO 69 258211005 289469003 21321009 14582003 63567004 87979003 80281008 271611007 194021007 22006008 32958008 95515009 204108000 61142002 95202004 373413006 228156007 247578003 91138005 199612005 22033007 32113001 11375002 23610003 398309008 92821006 250037002 69914001 253208007 422441003 249310005 249769001 268251006 34048007 423230008 19754005 246957002 413921009 64634000 95735008 268228006 193953008 400952003 201091002 31069005 80801001 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1234Disease definitionBartsocas-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 popliteal pterygium syndrome and multiple pterygium syndrome, escobar variant. 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 hypertelorism and low-set ears

OMIM : ⁵⁷ 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)

UniProtKB/Swiss-Prot : ⁷⁵ Popliteal pterygium syndrome, lethal type: 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 : ⁷⁶ 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.