Hirschsprung disease - nail hypoplasia - dysmorphism
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Al Gazali-Donnai-Muller syndrome |
| Number of Symptoms | 27 |
| OrphanetNr: | 2153 |
| OMIM Id: |
235760
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| ICD-10: |
Q43.1 |
| 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: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
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:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0000069) | Abnormality of the ureter | Frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0000795) | Abnormality of the urethra | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000072) | Hydroureter | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0000126) | Hydronephrosis | 119 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000470) | Short neck | Occasional [Orphanet] | 345 / 7739 | |||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0100729) | Large face | Occasional [Orphanet] | 19 / 7739 | |||
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(HPO:0000154) | Wide mouth | Occasional [Orphanet] | 137 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Occasional [Orphanet] | 185 / 7739 | |||
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(HPO:0000322) | Short philtrum | Occasional [Orphanet] | 130 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Occasional [Orphanet] | 305 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000598) | Abnormality of the ear | Frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0002251) | Aganglionic megacolon | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Occasional [Orphanet] | 176 / 7739 | |||
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(HPO:0002023) | Anal atresia | 135 / 7739 | ||||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0001792) | Small nail | 55 / 7739 | ||||
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(HPO:0001231) | Abnormality of the fingernails | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Very frequent [Orphanet] | 74 / 7739 | |||
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(OMIM) | Minor dysmorphic facies | 1 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
In a male and female sib pair of Sikh origin and a male offspring of first-cousin Pakistani Muslims, Al-Gazali et al. (1988) described a combination of Hirschsprung disease (megacolon), hypoplastic nails, and minor dysmorphic facial features. In 1 ... |