Sillence syndrome

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001761 Pes cavus Very frequent (99-80%)
HP:0001840 Metatarsus adductus Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0003180 Flat acetabular roof Frequent (79-30%)
HP:0005819 Short middle phalanx of finger Frequent (79-30%)
HP:0010239 Aplasia of the middle phalanx of the hand Frequent (79-30%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000300 Oval face Occasional (29-5%)
HP:0000926 Platyspondyly Occasional (29-5%)
HP:0001533 Slender build Occasional (29-5%)
HP:0001597 Abnormality of the nail Occasional (29-5%)
HP:0001782 Bulbous tips of toes Occasional (29-5%)
HP:0001783 Broad metatarsal Occasional (29-5%)
HP:0003418 Back pain Occasional (29-5%)
HP:0003468 Abnormal vertebral morphology Occasional (29-5%)
HP:0004679 Large tarsal bones Occasional (29-5%)
HP:0006170 Chess-pawn distal phalanges Occasional (29-5%)
HP:0008419 Intervertebral disc degeneration Occasional (29-5%)
HP:0008818 Large iliac wings Occasional (29-5%)
HP:0009381 Short finger Occasional (29-5%)
HP:0009832 Abnormal distal phalanx morphology of finger Occasional (29-5%)
HP:0009834 Abnormal proximal phalanx morphology of the hand Occasional (29-5%)
HP:0010052 Abnormal morphology of the proximal phalanx of the hallux Occasional (29-5%)
HP:0011304 Broad thumb Occasional (29-5%)
HP:0012385 Camptodactyly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID