Lichtenstein syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lichtenstein syndrome | |
| fr | Syndrome de Lichtenstein | |
| de | Lichtenstein-Syndrom | |
| es | Síndrome de Lichtenstein | |
| it | Sindrome di Lichtenstein | |
| nl | Syndroom van Lichstenstein | |
| pt | Síndrome Lichstenstein | |
| pl | Zespół Lichstensteina | |
| cs | Lichtensteinův syndrom | |
| uk | Синдром Ліхтенштейна | |
| zh | Lichtenstein综合征 | |
| tr | Lichtenstein sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246550 | E | validated | |
| ICD-10 | D70 | NTBT | attributed | validated |
| MONDO | 0009523 | E | validated | |
| MeSH | C535894 | E | validated | |
| UMLS | C1855502 | E | validated | |
| GARD | 3248 | 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 (1):
- ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
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 | 2 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2390
- This record as JSON: /data/d/2390.json