Ulnar/fibula ray defect - brachydactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Morava-Mehes syndrome |
| Number of Symptoms | 31 |
| OrphanetNr: | 52056 |
| OMIM Id: |
608571
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| ICD-10: |
Q73.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 1 family [Orphanet] |
| 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:
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(HPO:0011800) | Midface retrusion | Frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0011220) | Prominent forehead | 137 / 7739 | ||||
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(HPO:0000311) | Round face | 104 / 7739 | ||||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0004691) | 2-3 toe syndactyly | 50 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | Occasional [Orphanet] | 309 / 7739 | |||
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(HPO:0010621) | Cutaneous syndactyly of toes | 36 / 7739 | ||||
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(HPO:0003038) | Fibular hypoplasia | 30 / 7739 | ||||
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(HPO:0001776) | Bilateral talipes equinovarus | 8 / 7739 | ||||
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(HPO:0006210) | Postaxial oligodactyly | 3 / 7739 | ||||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Occasional [Orphanet] | 69 / 7739 | |||
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(HPO:0001156) | Brachydactyly syndrome | 180 / 7739 | ||||
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(HPO:0009700) | Finger symphalangism | 55 / 7739 | ||||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0005036) | Unilateral ulnar hypoplasia | 1 / 7739 | ||||
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(HPO:0009380) | Aplasia of the fingers | Occasional [Orphanet] | 51 / 7739 | |||
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(HPO:0001770) | Toe syndactyly | 149 / 7739 | ||||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0002991) | Abnormality of the fibula | Frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0100559) | Lower limb asymmetry | 30 / 7739 | ||||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001052) | Nevus flammeus | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0001028) | Hemangioma | 23 / 7739 | ||||
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(HPO:0001048) | Cavernous hemangioma | 28 / 7739 | ||||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(OMIM) | Normal breast | 1 / 7739 | ||||
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(OMIM) | Normal sweating | 13 / 7739 | ||||
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(MedDRA:10072883) | Brachydactyly | 153 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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