Proximal symphalangism

General Information (adopted from Orphanet):

Synonyms, Signs: Symphalangism, Cushing type
Number of Symptoms 25
OrphanetNr: 3250
OMIM Id: 185800
615298
ICD-10: Q70.9
UMLs: C1861385
MeSH: C536223
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with synostosis or other joint formation defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
2
 (HPO:0000381) Stapes ankylosis typical [HPO] 7 / 7739
3
 (HPO:0000405) Conductive hearing impairment typical [HPO] 164 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
5
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
6
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
7
 (HPO:0005880) Metacarpophalangeal synostosis very rare [HPO] 2 / 7739
8
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
9
 (HPO:0008368) Tarsal synostosis common [HPO] 21 / 7739
10
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
11
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
12
 (HPO:0001204) Distal symphalangism of hands rare [HPO] 13 / 7739
13
 (HPO:0006152) Proximal symphalangism of hands hallmark [HPO] 9 / 7739
14
 (HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand occasional [HPO] 13 / 7739
15
 (HPO:0003019) Abnormality of the wrist Occasional [Orphanet] 52 / 7739
16
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
17
 (HPO:0010047) Short 5th metacarpal 8 / 7739
18
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
19
 (HPO:0010194) Aplasia/Hypoplasia of the middle phalanges of the toes occasional [HPO] 4 / 7739
20
 (HPO:0009702) Carpal synostosis common [HPO] 26 / 7739
21
 (HPO:0009700) Finger symphalangism Very frequent [Orphanet] 55 / 7739
22
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
23
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
24
 (HPO:0003041) Humeroradial synostosis Frequent [Orphanet] 19 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: