MACROCEPHALY, BENIGN FAMILIAL
General Information (adopted from Orphanet):
| Synonyms, Signs: |
COLE-HUGHES SYNDROME |
| Number of Symptoms | 9 |
| OrphanetNr: | |
| OMIM Id: |
153470
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| ICD-10: |
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| 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: | No data available. |
| Inheritance: |
Male-limited autosomal dominant [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0000343) | Long philtrum | 262 / 7739 | ||||
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(HPO:0004422) | Biparietal narrowing | 2 / 7739 | ||||
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(HPO:0000268) | Dolichocephaly | 144 / 7739 | ||||
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(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
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(OMIM) | 'Dished out' midface | 2 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | 253 / 7739 | ||||
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(HPO:0001475) | Male-limited autosomal dominant | 2 / 7739 | ||||
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(OMIM) | Square facial outline | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Asch and Myers (1976) described 5 males in 2 generations of a family with occipitofrontal head circumferences greater than 2 SD above the mean. All were neurologically and mentally normal. A maternal uncle of the first generation was ... |