SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWEDZYGOMATIC ARCH

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr:
OMIM Id: 606895
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003771) Pulp stones 6 / 7739
2
(HPO:0000691) Microdontia 104 / 7739
3
(HPO:0009882) Short distal phalanx of finger 125 / 7739
4
(HPO:0004253) Absent trapezium 1 / 7739
5
(HPO:0011835) Absent scaphoid 1 / 7739
6
(HPO:0001859) Distal foot symphalangism 4 / 7739
7
(HPO:0009835) Aplasia/Hypoplasia of the distal phalanges of the hand 9 / 7739
8
(HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
9
(HPO:0100263) Distal symphalangism 5 / 7739
10
(HPO:0006106) Absent trapezoid bone 1 / 7739
11
(HPO:0009803) Short phalanx of finger 79 / 7739
12
(HPO:0001204) Distal symphalangism of hands 13 / 7739
13
(HPO:0010259) Cone-shaped epiphyses of the middle phalanges of the hand 4 / 7739
14
(HPO:0005819) Short middle phalanx of finger 28 / 7739
15
(HPO:0001798) Anonychia 28 / 7739
16
(HPO:0001792) Small nail 55 / 7739
17
(OMIM) Narrowed zygomatic arch 1 / 7739
18
(OMIM) Absent pisiform bone 1 / 7739
19
(OMIM) Dental pulp stones 1 / 7739
20
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Both proximal symphalangism (185800), which is due to mutations in the NOG gene (602991), and distal symphalangism (185700) are autosomal dominant disorders characterized by fusion of the proximal or distal interphalangeal joints, respectively. Kantaputra et al. (2002) described ...