Summitt syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 27 |
| OrphanetNr: | 3210 |
| OMIM Id: |
272350
|
| ICD-10: |
Q82.0 |
| UMLs: |
C1802405 |
| MeSH: |
C538142 |
| MedDRA: |
|
| Snomed: |
403767009 |
Prevalence, inheritance and age of onset:
| Prevalence: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic craniosynostosis
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
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(HPO:0000054) | Micropenis | Occasional [Orphanet] | 257 / 7739 | |||
|
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(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0005487) | Prominent metopic ridge | Very frequent [Orphanet] | 28 / 7739 | |||
|
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(HPO:0000457) | Depressed nasal ridge | Frequent [Orphanet] | 85 / 7739 | |||
|
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(HPO:0000445) | Wide nose | Frequent [Orphanet] | 190 / 7739 | |||
|
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
|
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(HPO:0001363) | Craniosynostosis | Very frequent [Orphanet] | 132 / 7739 | |||
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(HPO:0000263) | Oxycephaly | 10 / 7739 | ||||
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(HPO:0000275) | Narrow face | Very frequent [Orphanet] | 76 / 7739 | |||
|
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(HPO:0000159) | Abnormality of the lip | Occasional [Orphanet] | 33 / 7739 | |||
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(HPO:0001357) | Plagiocephaly | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Occasional [Orphanet] | 381 / 7739 | |||
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Occasional [Orphanet] | 328 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
|
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
|
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(HPO:0004209) | Clinodactyly of the 5th finger | Very frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0002857) | Genu valgum | Very frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0001513) | Obesity | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0000098) | Tall stature | Very frequent [Orphanet] | 74 / 7739 | |||
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(OMIM) | Tower skull | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Normal intelligence | 81 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|