GIACHETI SYNDROME
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MARFANOID HABITUS AND SPECIFIC LANGUAGE AND LEARNING DISABILITIES |
| Number of Symptoms | 13 |
| OrphanetNr: | |
| OMIM Id: |
612917
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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: |
Autosomal dominant inheritance [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:0000276) | Long face | 109 / 7739 | ||||
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(HPO:0000601) | Hypotelorism | 83 / 7739 | ||||
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(HPO:0000348) | High forehead | 157 / 7739 | ||||
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(HPO:0002167) | Neurological speech impairment | 308 / 7739 | ||||
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(HPO:0001328) | Specific learning disability | 114 / 7739 | ||||
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(HPO:0001833) | Long foot | 33 / 7739 | ||||
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(HPO:0000098) | Tall stature | 74 / 7739 | ||||
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(OMIM) | Language disabilities | 1 / 7739 | ||||
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(OMIM) | Defects in visual cue processing | 1 / 7739 | ||||
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(OMIM) | Defects in auditory cue processing | 1 / 7739 | ||||
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(OMIM) | Long hands | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Long thin nose | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Giacheti et al. (2007) reported a Brazilian family in which a mother and her 2 daughters had a marfanoid habitus and a specific pattern of language and learning disabilities. All had tall stature, high forehead, long face, hypotelorism, ... |