Split hand-split foot malformation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SHFM Ectrodactyly Lobster-claw deformity Split hand foot malformation |
| Number of Symptoms | 20 |
| OrphanetNr: | 2440 |
| OMIM Id: |
183600
225300 246560 313350 605289 606708 |
| ICD-10: |
Q71.6 Q72.7 |
| 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: | 5.4 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Split hand or/and split foot malformation
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000175) | Cleft palate | frequent [HPO] | 349 / 7739 | |||
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(HPO:0008053) | Aplasia/Hypoplasia of the iris | Occasional [Orphanet] | 38 / 7739 | |||
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(HPO:0000377) | Abnormality of the pinna | 35% [HPO] | 111 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 35% [HPO] | 539 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 33% [HPO] | 1089 / 7739 | |||
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(HPO:0001839) | Split foot | hallmark [HPO] | 28 / 7739 | |||
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(HPO:0001159) | Syndactyly | frequent [HPO] | 140 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0004060) | Trident hand | Occasional [Orphanet] | 13 / 7739 | |||
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(HPO:0001171) | Split hand | hallmark [HPO] | 72 / 7739 | |||
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(HPO:0004050) | Absent hand | Occasional [Orphanet] | 9 / 7739 | |||
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(HPO:0010055) | Broad hallux | 56 / 7739 | ||||
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(HPO:0001180) | Hand oligodactyly | frequent [HPO] | 17 / 7739 | |||
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(HPO:0001849) | Foot oligodactyly | frequent [HPO] | 9 / 7739 | |||
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(HPO:0009380) | Aplasia of the fingers | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 13% [HPO] | 355 / 7739 | |||
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(HPO:0001199) | Triphalangeal thumb | 56 / 7739 | ||||
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(HPO:0030084) | Clinodactyly | 90 / 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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