Hypospadias - hypertelorism - coloboma and deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 28 |
| OrphanetNr: | 157788 |
| OMIM Id: |
603463
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| ICD-10: |
Q87.0 |
| 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: | 2 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare eye disease due to a differentiation anomaly
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000232) | Everted lower lip vermilion | Very frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0000303) | Mandibular prognathia | Very frequent [Orphanet] | 179 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0002690) | Large sella turcica | 12 / 7739 | ||||
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(HPO:0000689) | Dental malocclusion | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Very frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0000625) | Cleft eyelid | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0012471) | Thick vermilion border | 115 / 7739 | ||||
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(HPO:0010537) | Wide cranial sutures | 21 / 7739 | ||||
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(HPO:0011120) | Concave nasal ridge | 9 / 7739 | ||||
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(HPO:0004492) | Widely patent fontanelles and sutures | 11 / 7739 | ||||
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(HPO:0000366) | Abnormality of the nose | Very frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0000636) | Upper eyelid coloboma | 7 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000410) | Mixed hearing impairment | 22 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0000768) | Pectus carinatum | Very frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001702) | Abnormality of the tricuspid valve | Very frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0001633) | Abnormality of the mitral valve | Very frequent [Orphanet] | 69 / 7739 | |||
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(OMIM) | Prominent lips | 7 / 7739 | ||||
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(OMIM) | Midline nasal cleft | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Thick philtrum | 1 / 7739 | ||||
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(OMIM) | Large, prominent sella turcica | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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