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Sillence syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Brachydactyly-distal symphalangism syndrome
SNOMED CT: Sillence syndrome (732956000); Brachydactyly and distal symphalangism syndrome (732956000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0007227
OMIM®: 113450
Orphanet: ORPHA3168


Syndrome that 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. The syndrome has been described in one family with five affected individuals from three successive generations. Transmission appears to be autosomal dominant. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSillence syndrome
Follow this link to review classifications for Sillence syndrome in Orphanet.

Recent clinical studies


Pang X, Wang Z, Chai Y, Chen H, Li L, Sun L, Jia H, Wu H, Yang T
Ann Otol Rhinol Laryngol 2015 Sep;124(9):745-51. Epub 2015 Apr 17 doi: 10.1177/0003489415582257. PMID: 25888563

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