Oculotrichodysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OTD Cecato de Lima-Pinheiro syndrome |
| Number of Symptoms | 31 |
| OrphanetNr: | 2718 |
| OMIM Id: |
257960
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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: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Syndromic retinitis pigmentosa -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000653) | Sparse eyelashes | 58 / 7739 | ||||
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(HPO:0000670) | Carious teeth | Very frequent [Orphanet] | 145 / 7739 | |||
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(HPO:0006349) | Agenesis of permanent teeth | 13 / 7739 | ||||
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(HPO:0005338) | Sparse lateral eyebrow | 21 / 7739 | ||||
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(HPO:0002209) | Sparse scalp hair | 59 / 7739 | ||||
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(HPO:0000691) | Microdontia | Frequent [Orphanet] | 104 / 7739 | |||
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(HPO:0006347) | Microdontia of primary teeth | 4 / 7739 | ||||
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(HPO:0006313) | Widely spaced primary teeth | 1 / 7739 | ||||
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(HPO:0006482) | Abnormality of dental morphology | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0004528) | Generalized hypotrichosis | 18 / 7739 | ||||
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(HPO:0002215) | Sparse axillary hair | 21 / 7739 | ||||
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(HPO:0001231) | Abnormality of the fingernails | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(HPO:0001808) | Fragile nails | 21 / 7739 | ||||
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(HPO:0002552) | Trichodysplasia | 4 / 7739 | ||||
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(HPO:0000958) | Dry skin | Very frequent [Orphanet] | 152 / 7739 | |||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Sparse distal two-thirds of eyebrows | 1 / 7739 | ||||
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(OMIM) | Structural hair changes on scanning EM | 1 / 7739 | ||||
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(HPO:0040189) | Scaling skin | 6 / 7739 | ||||
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(OMIM) | Scaling skin | 1 / 7739 | ||||
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(OMIM) | Small, pointed deciduous teeth | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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