Symphalangism with multiple anomalies of hands and feet
historical
Synonyms: Learman syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Symphalangism with multiple anomalies of hands and feet | Learman syndrome |
| fr | Syndrome de symphalangie-anomalies multiples des mains et des pieds | Syndrome de Learman |
| de | Symphalangismus mit multiplen Anomalien der Hände und Füße | Learman-Syndrom |
| es | Sinfalangismo-anomalías múltiples de manos y pies | Síndrome de Learman |
| it | Sinfalangismo con anomalie multiple delle mani e dei piedi | Sindrome di Learman |
| nl | Symfalangisme met meervoudige anomalieën van handen en voeten | Syndroom van Learman |
| pt | Sinfalangia com anomalias múltiplas das mãos e pés | Síndrome Learman |
| pl | Symfalangizm z wielokrotnymi wadami dłoni i stóp | Zespół Learmana |
| cs | Symfalangismus s mnohočetnými anomáliemi ruky a nohy | Learmanův syndrom |
| uk | Симфалангізм з множинними аномаліями кистей і стоп | Синдром Лірмана |
| zh | 指关节粘连伴手足多发畸形 | Learman综合征 |
| tr | Çoklu el ve ayak anomalisi olan simfalangizm | Learman sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185750 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| MONDO | 0008510 | E | validated | |
| MeSH | C566098 | E | validated | |
| UMLS | C1861391 | E | validated | |
| GARD | 5077 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93459Syndrome with synostosis or other joint formation defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 6272576[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6272576[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2017-04-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006019 | Reduced proximal interphalangeal joint space | |
| HP:0004197 | Symphalangism of the 4th finger | |
| HP:0004218 | Symphalangism of the 5th finger | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0010182 | Abnormality of the distal phalanges of the toes | |
| HP:0001032 | Absent distal interphalangeal creases | |
| HP:0005807 | Absent distal phalanges | |
| HP:0001156 | Brachydactyly | |
| HP:0030084 | Clinodactyly | |
| HP:0009700 | Finger symphalangism | |
| HP:0006101 | Finger syndactyly | |
| HP:0000256 | Macrocephaly | |
| HP:0010487 | Small hypothenar eminence | |
| HP:0001245 | Small thenar eminence | |
| HP:0010179 | Symphalangism affecting the phalanges of the toes | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0005650 | 2-5 finger cutaneous syndactyly | |
| HP:0006143 | Abnormal finger flexion creases | |
| HP:0001018 | Abnormal palmar dermatoglyphics | |
| HP:0100371 | Aplasia/Hypoplasia of the distal phalanx of the 5th toe | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0010103 | Short distal phalanx of hallux | |
Annotation source: 6272576[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3246
- This record as JSON: /data/d/3246.json