Disease #05352 (BCS (cornea, brittle, syndrome (BCS)))

Official abbreviation BCS
Name cornea, brittle, syndrome (BCS)
OMIM ID -
Inheritance -
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 2 genes PRDM5, ZNF469
Associated tissues -
Disease features -
Remarks -
Date created 2017-11-29 08:47:50 +01:00 (CET)
Date last edited N/A


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00143190 23680354-Pat3 PubMed: Rohrbach 2013, PubMed: Burkitt Wright 2013 - F yes Pakistan - - - - - BCS see paper, ... ZNF469 ZNF469 1 1 Johan den Dunnen
00143191 23680354-Pat1 PubMed: Rohrbach 2013 - F yes India - - - - - BCS see paper; ... ZNF469 ZNF469 1 1 Johan den Dunnen
00143192 23680354-Pat2 PubMed: Rohrbach 2013 - F no United Kingdom (Great Britain) - - - - - BCS see paper; ... ZNF469 ZNF469 2 1 Johan den Dunnen
00143193 Pat1 PubMed: Aldahmesh 2012 healthy first cousins parents F yes Saudi Arabia - - - - - BCS see paper, ..., blue sclerae, keratoconus BCO2, PRDM5 BCO2, PRDM5 2 1 Johan den Dunnen
00448063 Fam914Pat04 PubMed: Burkitt Wright 2011 family, 2 affected - yes United Kingdom (Great Britain) - - - - - BCS see paper; ..., corneal rupture; blue sclera; keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; no small joint hypermobility; no fractures; no myalgia; no abnormal gait; no deafness PRDM5 PRDM5 1 2 Johan den Dunnen
00448064 Fam914Pat06 PubMed: Burkitt Wright 2011 relative - yes United Kingdom (Great Britain) - - - - - BCS see paper; ..., corneal rupture; blue sclera; no keratoconus; no keratoglobus; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; no small joint hypermobility; no fractures; no myalgia; no abnormal gait; no deafness PRDM5 PRDM5 1 1 Johan den Dunnen
00448065 FamK921Pat03 PubMed: Burkitt Wright 2011 family, 2 affected - yes United Kingdom (Great Britain) - - - - - BCS see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; keratoglobus; megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; myalgia; abnormal gait; no deafness; corneal opacity; hernia; generalized joint hypermobility PRDM5 PRDM5 1 2 Johan den Dunnen
00448066 FamK923Pat03 PubMed: Burkitt Wright 2011 relative - yes United Kingdom (Great Britain) - - - - - BCS see paper; ..., no corneal rupture; myopia; blue sclera; keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; scoliosis; small joint hypermobility; no fractures; no myalgia; abnormal gait; no deafness; hernia; skin hyperelasticity; genu vara; pes planus; tibial bowing; generalized joint hypermobility PRDM5 PRDM5 1 1 Johan den Dunnen
00448067 FamBCS-001PatIV4 PubMed: Burkitt Wright 2011 5-generation family, 9 affected (9F) F yes Pakistan - - - - - BCS see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; scoliosis; small joint hypermobility; no fractures; myalgia; abnormal gait; deafness; hypercompliant tympanic membranes; primiparous cervical incompetence PRDM5 PRDM5 1 9 Johan den Dunnen
00448068 FamBCS-001PatIV6 PubMed: Burkitt Wright 2011 sister F yes Pakistan - - - - - BCS see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; myalgia; abnormal gait; deafness; hypercompliant tympanic membranes PRDM5 PRDM5 1 1 Johan den Dunnen
00448069 FamBCS-001PatIV8 PubMed: Burkitt Wright 2011 sister F yes Pakistan - - - - - BCS see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; abnormal gait; deafness; hypercompliant tympanic membranes PRDM5 PRDM5 1 1 Johan den Dunnen
00448070 FamBCS-001PatIV9 PubMed: Burkitt Wright 2011 twin sisters F yes Pakistan - - - - - BCS see paper; ..., corneal rupture; myopia; blue sclera; keratoconus; keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; abnormal gait; deafness; hypercompliant tympanic membranes PRDM5 PRDM5 1 1 Johan den Dunnen
00448071 FamBCS-001PatIV6 PubMed: Burkitt Wright 2011 twin sisters F yes Pakistan - - - - - BCS see paper; ..., no corneal rupture; no myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; fractures; myalgia; abnormal gait; deafness; hypercompliant tympanic membranes; learning disability PRDM5 PRDM5 1 1 Johan den Dunnen
00448072 FamBCS-002PatV1 PubMed: Burkitt Wright 2011 5-generation family, 4 affected (2F, 2M) M yes Pakistan - - - - - BCS see paper; ..., no corneal rupture; myopia; blue sclera; keratoconus; no keratoglobus; no megalocornea; poor healing/abnormal scarring; no soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; no fractures; no myalgia; normal gait; deafness; hypercompliant tympanic membranes; hernia PRDM5 PRDM5 1 4 Johan den Dunnen
00448073 FamBCS-002PatV4 PubMed: Burkitt Wright 2011 nephew F yes Pakistan - - - - - BCS see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; fractures; no myalgia; abnormal gait; deafness; hypercompliant tympanic membranes; learning disability PRDM5 PRDM5 1 1 Johan den Dunnen
00448074 FamBCS-002PatV5 PubMed: Burkitt Wright 2011 niece M yes Pakistan - - - - - BCS see paper; ..., no corneal rupture; myopia; blue sclera; no keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; no soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; no scoliosis; small joint hypermobility; fractures; no myalgia; normal gait; deafness; no hypercompliant tympanic membranes; learning disability; cleft lip and palate; phenylketonuria PRDM5 PRDM5 1 1 Johan den Dunnen
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