ORPHA:3292
Tel Hashomer camptodactyly syndrome
Synonyms: Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tel Hashomer camptodactyly syndrome | Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome |
| fr | Camptodactylie de Tel Hashomer | Syndrome de camptodactylie-hypoplasie musculaire-anomalies squelettiques-anomalies des plis palmaires |
| de | Tel-Hashomer-Kamptodaktylie-Syndrom | Kamptodaktylie-Syndrom Typ Tel-Hashomer |
| es | Síndrome de camptodactilia de Tel Hashomer | Síndrome de camptodactilia-hipoplasia muscular-anomalías esqueléticas-anomalías de los pliegues palmares |
| it | Sindrome da camptodattilia di Tel Hashomer | Sindrome da camptodattilia-ipoplasia muscolare-anomalie scheletriche e delle pieghe palmari |
| nl | Camptodactylie-syndroom van Tel Hashomer | Camptodactylie - musculaire hypoplasie - skeletanomalieën - abnormale handlijnen-syndroom |
| pt | Síndrome de camptodactilia Tel Hashomer | Síndrome de camptodactilia-hipoplasia muscular-anomalias esqueléticas-pregas palmares anómalas |
| pl | Zespół kamptodaktylii Tel Hashomer | = en |
| cs | Syndrom Tel Hashomerovy kamptodaktylie | = en |
| uk | Синдром камптодактилії Тель Хашомера | Синдром камптодактилії - мязової гіпоплазії - скелетних аномалій - аномальних долонних складок |
| zh | Tel Hashomer Camptodacty综合征 | |
| tr | Tel Hashomer kamptodaktili sendromu | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211960 | E | validated | |
| ICD-10 | Q74.0 | NTBT | attributed | validated |
| MONDO | 0008901 | E | validated | |
| MeSH | C536953 | E | validated | |
| UMLS | C1859356 | E | validated | |
| GARD | 5128 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:206634Genetic skeletal muscle disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3292
- This record as JSON: /data/d/3292.json