Limb-mammary syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LMS |
| Number of Symptoms | 17 |
| OrphanetNr: | 69085 |
| OMIM Id: |
603543
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| ICD-10: |
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| UMLs: |
C1863753 |
| MeSH: |
C535903 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 27 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Deficient breast volume or number
-Rare gynecologic or obstetric disease EEC syndrome and related syndrome -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare skin disease Syndrome with limb reduction defects -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000668) | Hypodontia | 81 / 7739 | ||||
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(HPO:0000193) | Bifid uvula | 66 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000564) | Lacrimal duct atresia | 4 / 7739 | ||||
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(HPO:0002557) | Hypoplastic nipples | 33 / 7739 | ||||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0001171) | Split hand | 72 / 7739 | ||||
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(HPO:0009473) | Joint contracture of the hand | 84 / 7739 | ||||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0001822) | Hallux valgus | 70 / 7739 | ||||
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(HPO:0001839) | Split foot | 28 / 7739 | ||||
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(HPO:0100257) | Ectrodactyly | 27 / 7739 | ||||
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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(HPO:0000966) | Hypohidrosis | 41 / 7739 | ||||
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(OMIM) | Aplastic/hypoplastic nipples | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Aplastic/hypoplastic breasts | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Van Bokhoven et al. (1999) described a 'new' syndrome, which they designated limb-mammary syndrome, in a large Dutch family. The features were severe hand/foot anomalies and hypoplasia/aplasia of the mammary gland and nipple. Less frequent findings included lacrimal-duct ... |
| Molecular genetics OMIM | Van Bokhoven et al. (2001) demonstrated mutations in the TP63 gene (603273.0012-603273.0013) in 2 small kindreds with LMS. |