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MCID: BRC096
MIFTS: 18
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Brachydactyly-Distal Symphalangism Syndrome
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Brachydactyly-Distal Symphalangism Syndrome:
Characteristics:Inheritance:
Brachydactyly-Distal Symphalangism Syndrome:
Autosomal dominant 57
Sillence Syndrome:
Autosomal dominant 58
Prevelance:
Sillence Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Sillence Syndrome:
Infancy,Neonatal 58
Classifications:
ICD10:
32
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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GARD: 19 Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. MalaCards based summary: Brachydactyly-Distal Symphalangism Syndrome, is also known as sillence syndrome. Affiliated tissues include bone, and related phenotypes are brachydactyly and pes cavus Orphanet: 58 Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.
More information from OMIM:
113450
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Human phenotypes related to Brachydactyly-Distal Symphalangism Syndrome:58 30 (show all 37)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:113450 (Updated 08-Dec-2022) |
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Organs/tissues related to Brachydactyly-Distal Symphalangism Syndrome:
MalaCards :
Bone
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Articles related to Brachydactyly-Distal Symphalangism Syndrome:
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Search
GEO
for disease gene expression data for Brachydactyly-Distal Symphalangism Syndrome.
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