ORPHA:2329
Karsch-Neugebauer syndrome
Synonyms: Split hand/split foot-nystagmus syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Karsch-Neugebauer syndrome | Split hand/split foot-nystagmus syndrome |
| fr | Syndrome de Karsck-Neugebauer | Syndrome de mains et pieds fendus-nystagmus |
| de | Karsch-Neugebauer-Syndrom | Spalthand/Spaltfuß - Nystagmus |
| es | Síndrome de Karsck-Neugebauer | Manos y pies hendidos-nistagmo |
| it | Sindrome di Karsck-Neugebauer | Schisi delle mani e dei piedi - nistagmo |
| nl | Syndroom van Karsch-Neugebauer | Gespleten hand/gespleten voet - nystagmus-syndroom |
| pt | Síndrome Karsch-Neugebauer | Síndrome de ectrodactilia nas mãos e pés-nistagmo |
| pl | Zespół Karscha i Neugebauera | Rozszczep dłoni/rozszczep stopy - zez |
| cs | Karschův-Neugebauerův syndrom | Syndrom zahrnující rozštěp ruky/rozštěp nohy a nystagmus · Karsch-Neugebauerův syndrom |
| uk | Синдром Карша-Нойгебауера | Синдром ністагму роздвоєної руки/роздвоєної ноги |
| zh | Karsch-Neugebauer综合征 | 手足分裂畸形-眼球震颤综合征 |
| tr | Karsch-Neugebauer sendromu | Bölünmüş el / bölünmüş ayak nistagmus sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 183800 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0008466 | E | validated | |
| MeSH | C537319 | E | validated | |
| UMLS | C1866740 | E | validated | |
| GARD | 4967 | 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:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 9450888[PMID]_23066244[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9450888[PMID]_23066244[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.
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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/2329
- This record as JSON: /data/d/2329.json