Astley-Kendall dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 4 |
| OrphanetNr: | 85175 |
| OMIM Id: |
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| ICD-10: |
Q77.3 |
| UMLs: |
|
| MeSH: |
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| MedDRA: |
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| Snomed: |
389263004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Chondrodysplasia punctata
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0002983) | Micromelia | Very frequent [Orphanet] | 130 / 7739 | |||
|
|
(HPO:0011849) | Abnormal bone ossification | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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