Aphalangy - syndactyly - microcephaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 24 |
| OrphanetNr: | 1113 |
| OMIM Id: |
600384
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| ICD-10: |
Q87.2 |
| 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: | 1 family [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal [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 Syndrome with limb reduction defects -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0100543) | Cognitive impairment | 230 / 7739 | ||||
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(HPO:0001830) | Postaxial foot polydactyly | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0011305) | Partial absence of toe | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0001991) | Aplasia/Hypoplasia of toe | 2 / 7739 | ||||
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(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0001449) | Duplication of metatarsal bones | 1 / 7739 | ||||
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(HPO:0001770) | Toe syndactyly | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0010554) | Cutaneous finger syndactyly | 39 / 7739 | ||||
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(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0002751) | Kyphoscoliosis | rare [HPO:skoehler] | 131 / 7739 | |||
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(HPO:0009700) | Finger symphalangism | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0010760) | Absent toe | Frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001231) | Abnormality of the fingernails | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0001804) | Hypoplastic fingernail | Frequent [Orphanet] | 62 / 7739 | |||
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(OMIM) | Hypoplastic nails of affected digits | 1 / 7739 | ||||
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(OMIM) | Partial distal aphalangia | 1 / 7739 | ||||
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(OMIM) | Duplication of metacarpal IV | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Normal great toes | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Martinez-Frias et al. (1995) reported on a Spanish family in which the father and a daughter and son had partial aphalangia, syndactyly with duplication of metatarsal IV, microcephaly, dull intelligence, and short stature. Although the types of limb ... |