Velo-facial-skeletal syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 34 |
| OrphanetNr: | 3424 |
| OMIM Id: |
600736
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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: | No data available. |
| Inheritance: |
Autosomal dominant 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:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000275) | Narrow face | Frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000506) | Telecanthus | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0000189) | Narrow palate | 45 / 7739 | ||||
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(HPO:0000276) | Long face | Very frequent [Orphanet] | 109 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | 121 / 7739 | ||||
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(HPO:0005989) | Redundant neck skin | Frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0011331) | Hemifacial atrophy | Frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0009466) | Radial deviation of finger | Frequent [Orphanet] | 101 / 7739 | |||
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(HPO:0001773) | Short foot | 86 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | Frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0009778) | Short thumb | 50 / 7739 | ||||
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(HPO:0001172) | Abnormality of the thumb | Frequent [Orphanet] | 103 / 7739 | |||
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(HPO:0001176) | Large hands | Frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0001169) | Broad palm | 43 / 7739 | ||||
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(HPO:0004209) | Clinodactyly of the 5th finger | Very frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0001212) | Prominent fingertip pads | 12 / 7739 | ||||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0005639) | Hyperextensible hand joints | 3 / 7739 | ||||
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(HPO:0001622) | Premature birth | Frequent [Orphanet] | 100 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001611) | Nasal speech | 48 / 7739 | ||||
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(OMIM) | Normal intelligence | 81 / 7739 | ||||
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(OMIM) | Broad and high nasal bridge | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Broad, short hands | 14 / 7739 | ||||
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(OMIM) | Mild mesomelic brachymelia | 1 / 7739 | ||||
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(OMIM) | Short stubby thumbs | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Teebi et al. (1995) presented the cases of a woman and her daughter with an apparently 'new' short stature syndrome associated with facial and skeletal anomalies and hypernasality. The manifestations included hypertelorism with broad and high nasal bridge, ... |