Macrosomia - microphthalmia - cleft palate
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Teebi-Al Saleh-Hassoon syndrome |
| Number of Symptoms | 16 |
| OrphanetNr: | 2432 |
| OMIM Id: |
248110
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| ICD-10: |
Q87.3 |
| 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 recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0009099) | Median cleft palate | 3 / 7739 | ||||
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0000248) | Brachycephaly | Frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0000337) | Broad forehead | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0000239) | Large fontanelles | Very frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0000482) | Microcornea | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0001520) | Large for gestational age | 34 / 7739 | ||||
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Very frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0004880) | Respiratory infections in early life | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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