Postaxial tetramelic oligodactyly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr: 2730
OMIM Id: 176240
ICD-10: Q73.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0006209) Partial-complete absence of 5th phalanges 1 / 7739
2
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
3
 (HPO:0100259) Postaxial polydactyly 85 / 7739
4
 (HPO:0000954) Single transverse palmar crease 162 / 7739
5
 (HPO:0004251) Lunate-triquetral fusion 1 / 7739
6
 (HPO:0006210) Postaxial oligodactyly 3 / 7739
7
 (HPO:0008079) Absent fifth metatarsal 1 / 7739
8
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
9
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
10
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
11
 (HPO:0001830) Postaxial foot polydactyly 37 / 7739
12
 (HPO:0002986) Radial bowing 27 / 7739
13
 (HPO:0010046) Aplasia of the 5th metacarpal 1 / 7739
14
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
15
 (OMIM) Absent 5th phalanges 1 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (OMIM) Mild radial bowing 1 / 7739
18
 (OMIM) Normal tarsal bones 1 / 7739
19
 (OMIM) Normal ulnae 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: