Goodman syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ACPS IV GOODMAN SYNDROME ACPS 4 Acrocephalopolysyndactyly type 4 |
| Number of Symptoms | 12 |
| OrphanetNr: | 65798 |
| OMIM Id: |
201020
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| ICD-10: |
Q87.0 |
| 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: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit -Rare developmental defect during embryogenesis Syndromic craniosynostosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000263) | Oxycephaly | 10 / 7739 | ||||
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(HPO:0009466) | Radial deviation of finger | 101 / 7739 | ||||
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(HPO:0001159) | Syndactyly | 140 / 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:0010442) | Polydactyly | 69 / 7739 | ||||
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(HPO:0001161) | Hand polydactyly | 71 / 7739 | ||||
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(HPO:0001193) | Ulnar deviation of the hand or of fingers of the hand | 17 / 7739 | ||||
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(HPO:0030084) | Clinodactyly | 90 / 7739 | ||||
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(OMIM) | Ulnar deviation | 5 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(MedDRA:10058668) | Clinodactyly | 91 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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