Distal symphalangism

General Information (adopted from Orphanet):

Synonyms, Signs: SYM2
Number of Symptoms 16
OrphanetNr: 3248
OMIM Id: 185700
ICD-10: Q70.9
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 5 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Joint formation defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001363) Craniosynostosis 132 / 7739
2
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
3
 (HPO:0009700) Finger symphalangism Very frequent [Orphanet] 55 / 7739
4
 (HPO:0005048) Synostosis of carpal bones Occasional [Orphanet] 39 / 7739
5
 (HPO:0100263) Distal symphalangism 5 / 7739
6
 (HPO:0001859) Distal foot symphalangism 4 / 7739
7
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
8
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
9
 (HPO:0001049) Absent dorsal skin creases over affected joints 2 / 7739
10
 (HPO:0001204) Distal symphalangism of hands 13 / 7739
11
 (HPO:0001792) Small nail 55 / 7739
12
 (HPO:0001798) Anonychia 28 / 7739
13
 (MedDRA:10072883) Brachydactyly 153 / 7739
14
 (OMIM) Forth digit hypophalangism (absence of distal phalanx) 1 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (HPO:0003828) Variable expressivity 130 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Distal symphalangism is ankylosis or rigidity of the distal interphalangeal joints of the hands and/or the feet (summary by Poush, 1991).
Clinical Description OMIM Inman (1924) found distal symphalangism in 4 generations of a family. In the published x-rays, the fusion was most complete in the index finger. Steinberg and Reynolds (1948) provided follow-up on the family of Inman (1924).

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