Hirschsprung disease - type D brachydactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 10 |
| OrphanetNr: | 2150 |
| OMIM Id: |
306980
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| ICD-10: |
Q43.1 |
| UMLs: |
C1844017 |
| MeSH: |
C538319 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 cases [Orphanet] |
| Inheritance: |
X-linked recessive inheritance [Omim] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndromic anorectal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic intestinal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0002251) | Aganglionic megacolon | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0001844) | Abnormality of the hallux | Frequent [Orphanet] | 3 / 7739 | |||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0009778) | Short thumb | 50 / 7739 | ||||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0005627) | Type D brachydactyly | 3 / 7739 | ||||
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(HPO:0001804) | Hypoplastic fingernail | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Very frequent [Orphanet] | 74 / 7739 | |||
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(OMIM) | Absent/hypoplastic thumb and great toe distal phalanges | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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