Spondyloepimetaphyseal dysplasia - hypotrichosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
WHYTE SYNDROME |
| Number of Symptoms | 23 |
| OrphanetNr: | 168443 |
| OMIM Id: |
183849
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| ICD-10: |
Q77.7 |
| UMLs: |
C1866728 |
| MeSH: |
C535783 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0002663) | Delayed epiphyseal ossification | 21 / 7739 | ||||
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(HPO:0100864) | Short femoral neck | 36 / 7739 | ||||
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(HPO:0003411) | Proximal femoral metaphyseal irregularity | 7 / 7739 | ||||
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(HPO:0005043) | Proximal humeral metaphyseal irregularity | 2 / 7739 | ||||
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(HPO:0003184) | Decreased hip abduction | 7 / 7739 | ||||
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(HPO:0002970) | Genu varum | 60 / 7739 | ||||
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(HPO:0002834) | Flared femoral metaphysis | 6 / 7739 | ||||
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(HPO:0008905) | Rhizomelia | 85 / 7739 | ||||
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(HPO:0002651) | Spondyloepimetaphyseal dysplasia | 19 / 7739 | ||||
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(HPO:0002869) | Flared iliac wings | 20 / 7739 | ||||
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(HPO:0006599) | Medial widening of clavicles | 1 / 7739 | ||||
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(HPO:0005090) | Lateral femoral bowing | 2 / 7739 | ||||
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(HPO:0003911) | Flared humeral metaphysis | 3 / 7739 | ||||
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(HPO:0004581) | Increased anterior vertebral height | 1 / 7739 | ||||
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(HPO:0004566) | Pear-shaped vertebrae | 3 / 7739 | ||||
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(HPO:0002812) | Coxa vara | 58 / 7739 | ||||
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(HPO:0001006) | Hypotrichosis | 219 / 7739 | ||||
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(HPO:0004763) | Paroxysmal supraventricular tachycardia | 10 / 7739 | ||||
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(OMIM) | Normal teeth | 15 / 7739 | ||||
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(OMIM) | Epiphyseal irregularity | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Rhizomelic (upper extremities greater than lower extremities) | 1 / 7739 | ||||
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(OMIM) | Normal nails | 15 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
In 5 members of 3 successive generations, Whyte et al. (1989, 1990) described congenital hypotrichosis and spondyloepimetaphyseal dysplasia resulting in mild rhizomelic short stature. The first affected member in the family, the 65-year-old grandmother, was reportedly 147 cm ... |