Disease #00753 (BPS (Bartsocas-Papas syndrome))

Official abbreviation BPS
Name Bartsocas-Papas syndrome
OMIM ID -
Inheritance Autosomal recessive
Individuals reported having this disease 7
Phenotype entries for this disease 6
Associated with 1 gene RIPK4
Associated tissues -
Disease features orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; nails; (oligodontia)
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-02-06 15:44:51 +01:00 (CET)


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00314711 FamPatV2 PubMed: Dincer 2021 5-generation family, 2 affected fetuses, unaffected heterozygous carrier parents/relatives - yes Turkey - - - - - BPS see paper; ..., 17w-pregnancy terminated, severe intrauterine developmental abnormalities RIPK4 RIPK4 1 2 Bayram Toraman
00462239 patient PubMed: Mitchell 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) - - - - - BPS see paper; ..., pregnancy multiple congenital abnormalities; 1w preterm fetal bradycardia; birth weight 2.95kg, OFC 34cm; alopecia totalis, sparse scalp hair, partial ankyloblepharon, oral synechia partial occlusion oral cavity, hypertelorism, cloudy corneas, absent thumbs, finger oligosyndactyly, hypoplastic genitalia, extensive popliteal pterygia, toe oligosyndactyly, multiple skin tags, unusual fibrous tethers between feet/suprapubic region - RIPK4 1 1 Johan den Dunnen
00462240 patient;Pat2 PubMed: Shanske 2004, PubMed: Mitchell 2012 2-generation family, 2 affected fetuses (F, M), unaffected parents F;M yes Gambia - - - - - BPS - RIPK4 RIPK4 1 1 Johan den Dunnen
00462245 BPS1 PubMed: Leslie 2015 2-generation family, 1 affected/1 affected fetus, unaffected heterozygous carrier first-cousin parents F yes - - - - - - BPS see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; hypoplastic nails RIPK4 RIPK4 1 1 Johan den Dunnen
00462246 BPS2 PubMed: Leslie 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - BPS see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; genital hypoplasia; sparse hair; lip pits; bilateral cleft lip/palate, lower lip pits, bands between jaws, bilateral club feet, popliteal pterygia, no eyelashes, no eyebrows, sparse scalp hair, brittle nails, absent/small toenails, III-IV-V syndactyly right foot, triangular overgrowth skin over nail first right toe RIPK4 RIPK4 1 1 Johan den Dunnen
00462247 BPS3 PubMed: Leslie 2015 2-generation family, 1 affected, unaffected heterozygous carrier first degree cousin parents F yes Saudi Arabia - - - - - BPS see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits - CHUK 1 1 Johan den Dunnen
00462248 Pat1 PubMed: Busa 2017 2-generation family, affected fetus (17w), unaffected heterozygous carrier parents F yes Morocco - <00y00m00d - - - BPS see paper; ..., 17w-aborted fetus (facial cleft, omphalocele, fetal immobility, arthrogryposis); facial appearance Bartsocas-Papas syndrome (no eyelids, bilateral labio-maxillo palatal cleft, nasal hypoplasia, small ears attached to scalp), small omphalocele, multiple pterygia upper/lower limbs, syndactyly hands/feet, club feet, anal atresia, absence external genitalia male fetus RIPK4 RIPK4 1 1 Johan den Dunnen
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