Woolly hair - hypotrichosis - everted lower lip - outstanding ears
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Wooly hair - hypotrichosis - everted lower lip - outstanding ears salamon syndrome |
| Number of Symptoms | 20 |
| OrphanetNr: | 1409 |
| OMIM Id: |
278200
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| ICD-10: |
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| UMLs: |
C0406718 |
| MeSH: |
C536746 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 1 family [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic hair shaft abnormality
-Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0000488) | Retinopathy | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0001638) | Cardiomyopathy | Occasional [Orphanet] | 192 / 7739 | |||
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(HPO:0011675) | Arrhythmia | Occasional [Orphanet] | 226 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Occasional [Orphanet] | 308 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Occasional [Orphanet] | 250 / 7739 | |||
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(HPO:0001595) | Abnormality of the hair | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0003777) | Pili torti | Frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0002299) | Brittle hair | Frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0002224) | Woolly hair | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0005599) | Hypopigmentation of hair | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | 219 / 7739 | ||||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Occasional [Orphanet] | 115 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Occasional [Orphanet] | 291 / 7739 | |||
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(HPO:0000232) | Everted lower lip vermilion | Very frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0000411) | Protruding ear | Very frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0001052) | Nevus flammeus | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Occasional [Orphanet] | 216 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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