Disease #04384 (MSSD (syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD)), OMIM:609432)

Official abbreviation MSSD
Name syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD)
OMIM ID 609432
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 1 gene BHLHA9
Associated tissues -
Disease features -
Remarks -
Date created 2015-09-23 10:25:22 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00165041 bd PubMed: Ullah 2019 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan SINDHI - - - - MSSD syndactyly, polydactyly, phalangeal reduction and hypoplastic nails,camptodactyly with hypoplastic nails, bilateral mesoaxial synostotic syndactyly, and postaxial polydactyly in the right hand BHLHA9 BHLHA9 1 3 Muhammad Umair
00408117 Fam1PatIV-7 PubMed: Malik 2014, Journal: Malik 2014 4-generation family, 8 affected (3F, 5M), unaffected heterozygous carrier parents/relatives M yes Pakistan Punjab - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 8 Johan den Dunnen
00408118 Fam1PatIV-5 PubMed: Malik 2014, Journal: Malik 2014 - M yes Pakistan Punjab - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 1 Johan den Dunnen
00408119 Fam1PatIV-1 PubMed: Malik 2014, Journal: Malik 2014 - F yes Pakistan Punjab - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; no mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 1 Johan den Dunnen
00408120 Fam1PatIV-2 PubMed: Malik 2014, Journal: Malik 2014 - M yes Pakistan Punjab - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 1 Johan den Dunnen
00408121 Fam2PatV-3 PubMed: Malik 2014, Journal: Malik 2014 5-generation family, 8 affected (F, 2M), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 3 Johan den Dunnen
00408122 Fam2PatV-1 PubMed: Malik 2014, Journal: Malik 2014 - M yes Turkey - - - - - MSSD mesoaxial reduction finger; short index finger; no clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 1 Johan den Dunnen
00408123 Fam2PatIV-4 PubMed: Malik 2014, Journal: Malik 2014 - M yes Turkey - - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 1 Johan den Dunnen
00408124 Fam3PatIV-2 PubMed: Malik 2014, Journal: Malik 2014 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives2 M yes Turkey - - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; preaxial webbing toes; no mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 2 Johan den Dunnen
00408125 Fam3PatIV-4 PubMed: Malik 2014, Journal: Malik 2014 sister F yes Turkey - - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 1 Johan den Dunnen
00408126 Fam4PatIV-1 PubMed: Malik 2014, Journal: Malik 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Italy - - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 1 Johan den Dunnen
00408127 Fam5PatII-1 PubMed: Malik 2014, Journal: Malik 2014 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan Sindh - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; no mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 1 Johan den Dunnen
00408128 Fam6PatIII-4 PubMed: Malik 2014, Journal: Malik 2014 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives2 M yes Pakistan KPK - - - - MSSD mesoaxial reduction finger; short index finger; clinodactyly; no preaxial webbing toes; mesoaxial webbing (2/3 toes) BHLHA9 BHLHA9 1 2 Johan den Dunnen
00408131 - PubMed: Khan 2017 2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - MSSD see paper; ..., mesoaxial synostotic syndactyly with phalangeal reduction BHLHA9 BHLHA9 1 5 Johan den Dunnen
00408148 patient PubMed: Diaz-Gonzalez 2020 - F - Spain - - - - - MSSD see paper; ..., four digits both hands due to bilateral complete cutaneous and osseous syndactyly third and fourth fingers; bilateral fifth finger clinodactyly; bilateral shortening and broadening first toe, broad second toe, bilateral clinodactyly fourth toe; partial cutaneous syndactyly second and third toes; hypoplastic nails fingers and toes; no other malformations, no reduced functionality, no skeletal abnormalities in parents. BHLHA9 BHLHA9 2 1 Johan den Dunnen
00408149 family PubMed: Sedighzadeh 2021 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - MSSD see paper; ... - BHLHA9 1 2 Johan den Dunnen
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