Dysplasia epiphysealis hemimelica

General Information (adopted from Orphanet):

Synonyms, Signs: trevor disease
Number of Symptoms 16
OrphanetNr: 1822
OMIM Id: 127800
ICD-10: Q74.8
UMLs: C0432282
MeSH: C537997
MedDRA:
Snomed: 205480005

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Primary bone dysplasia with disorganized development of skeletal components
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005616) Accelerated skeletal maturation Very frequent [Orphanet] 46 / 7739
2
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
3
 (HPO:0002823) Abnormality of the femur Occasional [Orphanet] 61 / 7739
4
 (HPO:0001763) Pes planus Very frequent [Orphanet] 176 / 7739
5
 (HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
6
 (HPO:0002758) Osteoarthritis Very frequent [Orphanet] 78 / 7739
7
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
8
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
9
 (HPO:0002970) Genu varum Frequent [Orphanet] 60 / 7739
10
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
11
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
12
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
13
 (HPO:0100555) Asymmetric growth Very frequent [Orphanet] 25 / 7739
14
 (HPO:0001548) Overgrowth 27 / 7739
15
 (OMIM) Asymmetrical cartilaginous overgrowth of epiphyses, esp 1 / 7739
16
 (OMIM) tarsal or carpal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: