Brachydactyly type E

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 93387
OMIM Id: 113300
613382
ICD-10: Q73.8
UMLs: C0265312
MeSH:
MedDRA:
Snomed: 63711009

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 brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000311) Round face 104 / 7739
2
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
3
 (HPO:0001571) Multiple impacted teeth 5 / 7739
4
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
5
 (HPO:0002817) Abnormality of the upper limb Occasional [Orphanet] 25 / 7739
6
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
7
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
8
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
9
 (HPO:0010743) Short metatarsal 56 / 7739
10
 (HPO:0010049) Short metacarpal 99 / 7739
11
 (HPO:0006587) Straight clavicles 3 / 7739
12
 (HPO:0005863) Type E brachydactyly 4 / 7739
13
 (HPO:0000894) Short clavicles 30 / 7739
14
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
15
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
16
 (HPO:0008848) Moderately short stature 6 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: