Hypodontia - dysplasia of nails
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ECTODERMAL DYSPLASIA 3, WITKOP TYPE TOOTH-AND-NAIL SYNDROME ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE NAIL DYSPLASIA WITH HYPODONTIA ECTD3 TNS Hypodontia - nail dysgenesis Tooth and nail syndrome Witkop syndrome |
| Number of Symptoms | 28 |
| OrphanetNr: | 2228 |
| OMIM Id: |
189500
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| ICD-10: |
Q82.4 |
| 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 [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 Genetic malformation syndrome with odontal and/or periodontal component -Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease |
Symptom Information:
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(HPO:0000137) | Abnormality of the ovary | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0006482) | Abnormality of dental morphology | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0006347) | Microdontia of primary teeth | 4 / 7739 | ||||
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(HPO:0000232) | Everted lower lip vermilion | Frequent [Orphanet] | 90 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0006349) | Agenesis of permanent teeth | 13 / 7739 | ||||
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(HPO:0000684) | Delayed eruption of teeth | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0001598) | Concave nail | 14 / 7739 | ||||
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(HPO:0001792) | Small nail | 55 / 7739 | ||||
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0002213) | Fine hair | Frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0008070) | Sparse hair | 94 / 7739 | ||||
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(HPO:0001804) | Hypoplastic fingernail | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001807) | Ridged nail | 20 / 7739 | ||||
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(HPO:0001803) | Nail pits | 17 / 7739 | ||||
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(HPO:0001800) | Hypoplastic toenails | Very frequent [Orphanet] | 74 / 7739 | |||
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(OMIM) | Normal hair | 7 / 7739 | ||||
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(OMIM) | Lip eversion | 1 / 7739 | ||||
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(OMIM) | Partial to total absence of permanent teeth | 1 / 7739 | ||||
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(OMIM) | Nail changes improve with age | 1 / 7739 | ||||
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(OMIM) | Toenails often more affected than fingernails | 1 / 7739 | ||||
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(OMIM) | Thin, small friable nails | 1 / 7739 | ||||
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(OMIM) | Normal facies | 9 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Normal to small primary teeth | 1 / 7739 | ||||
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(OMIM) | Normal sweat glands | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Witkop syndrome is a rare autosomal dominant ... |
| Clinical Description OMIM |
Changes are limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). The teeth are not as severely affected. Witkop (1965) stated that the condition is frequent among ... |
| Molecular genetics OMIM | In a 3-generation family with Witkop syndrome, Jumlongras et al. (2001) identified a nonsense mutation in the MSX1 gene (142983.0003) that cosegregated with the phenotype. |