BRACHYDACTYLY, TYPE E1

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYDACTYLY, TYPE E
BDE
BDE1
Number of Symptoms 8
OrphanetNr:
OMIM Id: 113300
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:0001571) Multiple impacted teeth 5 / 7739
2
(HPO:0000311) Round face 104 / 7739
3
(HPO:0010049) Short metacarpal 99 / 7739
4
(HPO:0008848) Moderately short stature 6 / 7739
5
(MedDRA:10072883) Brachydactyly 153 / 7739
6
(OMIM) Radiologically indistinguishable from the PHP-PPHP syndrome 1 / 7739
7
(OMIM) Straight and short clavicles 1 / 7739
8
(OMIM) Variable short metatarsals 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Male-to-male transmission of type E ...
Molecular genetics OMIM Johnson et al. (2003) performed a mutation screen of the HOXD13 gene in a family previously classified as having brachydactyly type E (Brailsford, 1945; Oude Luttikhuis et al., 1996) and identified a heterozygous ser308-to-cys mutation (S308C; 142989.0005). The ...