Guttmacher syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GUTTMACHER SYNDROME Preaxial deficiency - postaxial polydactyly - hypospadias |
| Number of Symptoms | 13 |
| OrphanetNr: | 2957 |
| OMIM Id: |
176305
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| ICD-10: |
Q87.2 |
| UMLs: |
C1867801 |
| MeSH: |
C538278 |
| 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: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
-Rare bone disease -Rare developmental defect during embryogenesis Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000807) | Glandular hypospadias | 3 / 7739 | ||||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Very frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0001885) | Short 2nd toe | 4 / 7739 | ||||
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(HPO:0001162) | Postaxial hand polydactyly | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0010109) | Short hallux | Very frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Frequent [Orphanet] | 74 / 7739 | |||
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(OMIM) | Congenital preaxial hand and foot deficiencies | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Guttmacher (1993) suggested that a disorder he observed in a father and son and daughter was distinct from the hand-foot-genital (HFG) syndrome (140000) which it resembled in some ways. All 3 individuals were born with preaxial deficiencies of ... |
| Molecular genetics OMIM |
Because of similarities to the hand-foot-genital syndrome, which is caused by mutations in the HOXA13 gene, Innis et al. (2002) reinvestigated the family reported by Guttmacher (1993) and found a specific HOXA13 missense mutation, gln50 to leu (Q50L; ... |