Symphalangism with multiple anomalies of hands and feet
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Learman syndrome |
| Number of Symptoms | 23 |
| OrphanetNr: | 3246 |
| OMIM Id: |
185750
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| ICD-10: |
Q74.8 |
| 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: | 6 cases [Orphanet] |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| 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 Syndrome with synostosis or other joint formation defect -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000256) | Macrocephaly | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Occasional [Orphanet] | 539 / 7739 | |||
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(HPO:0004691) | 2-3 toe syndactyly | 50 / 7739 | ||||
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(HPO:0002808) | Kyphosis | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0001049) | Absent dorsal skin creases over affected joints | 2 / 7739 | ||||
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(HPO:0001245) | Small thenar eminence | 10 / 7739 | ||||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0010487) | Small hypothenar eminence | 4 / 7739 | ||||
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(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001850) | Abnormality of the tarsal bones | Occasional [Orphanet] | 40 / 7739 | |||
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(HPO:0006152) | Proximal symphalangism of hands | 9 / 7739 | ||||
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(HPO:0001864) | Clinodactyly of the 5th toe | 6 / 7739 | ||||
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(HPO:0010554) | Cutaneous finger syndactyly | 39 / 7739 | ||||
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(HPO:0100264) | Proximal symphalangism | 3 / 7739 | ||||
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(HPO:0009778) | Short thumb | 50 / 7739 | ||||
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(HPO:0009700) | Finger symphalangism | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0100237) | Proximal foot symphalangism | 2 / 7739 | ||||
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(HPO:0006019) | Reduced proximal interphalangeal joint space | 1 / 7739 | ||||
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(HPO:0010621) | Cutaneous syndactyly of toes | 36 / 7739 | ||||
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(HPO:0001770) | Toe syndactyly | 149 / 7739 | ||||
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(HPO:0007477) | Abnormal dermatoglyphics | Very frequent [Orphanet] | 72 / 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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