Multiple epiphyseal dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Polyepiphyseal dysplasia |
| Number of Symptoms | 26 |
| OrphanetNr: | 251 |
| OMIM Id: |
|
| ICD-10: |
Q77.3 |
| UMLs: |
C0026760 |
| MeSH: |
|
| MedDRA: |
10028197 |
| Snomed: |
59708000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 5 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple epiphyseal dysplasia and pseudoachondroplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000311) | Round face | Very frequent [Orphanet] | 104 / 7739 | |||
|
|
(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
|
|
(HPO:0012368) | Flat face | Frequent [Orphanet] | 106 / 7739 | |||
|
|
(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
|
|
(HPO:0000478) | Abnormality of the eye | Very frequent [Orphanet] | 126 / 7739 | |||
|
|
(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
|
|
(HPO:0002997) | Abnormality of the ulna | Very frequent [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
|
|
(HPO:0011867) | Abnormality of the wing of the ilium | Very frequent [Orphanet] | 123 / 7739 | |||
|
|
(HPO:0003103) | Abnormal cortical bone morphology | Very frequent [Orphanet] | 38 / 7739 | |||
|
|
(HPO:0003019) | Abnormality of the wrist | Very frequent [Orphanet] | 52 / 7739 | |||
|
|
(HPO:0100670) | Rough bone trabeculation | Very frequent [Orphanet] | 12 / 7739 | |||
|
|
(HPO:0002823) | Abnormality of the femur | Frequent [Orphanet] | 61 / 7739 | |||
|
|
(HPO:0005930) | Abnormality of epiphysis morphology | Very frequent [Orphanet] | 119 / 7739 | |||
|
|
(HPO:0002763) | Abnormal cartilage morphology | Very frequent [Orphanet] | 15 / 7739 | |||
|
|
(HPO:0001850) | Abnormality of the tarsal bones | Very frequent [Orphanet] | 40 / 7739 | |||
|
|
(HPO:0003312) | Abnormal form of the vertebral bodies | Frequent [Orphanet] | 172 / 7739 | |||
|
|
(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
|
|
(HPO:0200055) | Small hand | Very frequent [Orphanet] | 71 / 7739 | |||
|
|
(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
|
|
(HPO:0010305) | Absence of the sacrum | Very frequent [Orphanet] | 17 / 7739 | |||
|
|
(HPO:0002983) | Micromelia | Occasional [Orphanet] | 130 / 7739 | |||
|
|
(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
|
|
(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0001804) | Hypoplastic fingernail | Occasional [Orphanet] | 62 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|