MCID: BRC096
MIFTS: 17
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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:Orphanet epidemiological data:58
sillence syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3168 Definition 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. Epidemiology The syndrome has been described in one family with five affected individuals from three successive generations. Genetic counseling Transmission appears to be autosomal dominant . Visit the Orphanet disease page for more resources.
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
More information from OMIM:
113450
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Human phenotypes related to Brachydactyly-Distal Symphalangism Syndrome:58 31 (show all 36)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:113450 |
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MalaCards organs/tissues related to Brachydactyly-Distal Symphalangism Syndrome:40
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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