ORPHA:3258
Cenani-Lenz syndrome
Synonyms: Cenani syndactyly · Cenani-Lenz syndactyly · Syndactyly type 7
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cenani-Lenz syndrome | Cenani syndactyly · Cenani-Lenz syndactyly · Syndactyly type 7 |
| fr | Syndrome de Cenani-Lenz | Syndactylie de Cenani · Syndactylie de Cenani-Lenz · Syndactylie type 7 |
| de | Cenani-Lenz-Syndaktylie | Cenani-Lenz-Syndrom · Cenani-Syndaktylie · Syndaktylie Typ 7 · Syndaktylie Typ Cenani-Lenz |
| es | Síndrome de Cenani-Lenz | Sindactilia de Cenani · Sindactilia de Cenani-Lenz · Sindactilia tipo 7 |
| it | Sindrome di Cenani-Lenz | Sindattilia di Cenani · Sindattilia di Cenani-Lenz · Sindattilia, tipo 7 |
| nl | Syndroom van Cenani-Lenz | Syndactylie type 7 · Syndactylie van Cenani · Syndactylie van Cenani-Lenz |
| pt | Síndrome Cenani-Lenz | Sindactilia Cenani · Sindactilia Cenani-Lenz · Sindactilia tipo 7 |
| pl | Zespół Cenani i Lenza | Syndaktylia Cenani · Syndaktylia Cenani i Lenza · Syndaktylia typu 7 |
| cs | Cenaniho-Lenzův syndrom | Cenaniho syndaktylie · Cenaniho-Lenzova syndaktylie · Syndaktylie, typ 7 · Cenani-Lenzův syndrom · Cenani-Lenzova syndaktylie |
| uk | Синдром Сенані-Ленца | Синдактилія Сенані · Синдактилія Сенані-Ленца · Синдактилія типу 7 |
| zh | Cenani-Lenz综合征 | Cenani-Lenz型并指（趾）畸形 |
| tr | Cenani-Lenz sendromu | Cenani sindaktili · Sindaktili tip 7 · Cenani-Lenz sindaktili |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212780 | E | validated | |
| ICD-10 | Q78.4 | NTBT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0008931 | E | validated | |
| MeSH | C538150 | E | validated | |
| UMLS | C1859309 | E | validated | |
| GARD | 5084 | 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 (1):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRP4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6696 | ENSG00000134569 | 604270 | 11p11.2 | LDL receptor related protein 4 | 20381006[PMID]_23636941[PMID] |
| APC | Disease-causing germline mutation(s) in | Assessed | HGNC:583 | ENSG00000134982 | 611731 | 5q22.2 | APC regulator of Wnt signaling pathway | 25676610[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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.
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HPO phenotypes
41 annotations · validated 2017-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001817 | Absent fingernail | |
| HP:0006101 | Finger syndactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0012165 | Oligodactyly | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0100240 | Synostosis of joints | |
| Frequent (79-30%) | ||
| HP:0001802 | Absent toenail | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000316 | Hypertelorism | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0009778 | Short thumb | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000518 | Cataract | |
| HP:0000444 | Convex nasal ridge | |
| HP:0004736 | Crossed fused renal ectopia | |
| HP:0000656 | Ectropion | |
| HP:0003042 | Elbow dislocation | |
| HP:0001849 | Foot oligodactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0002705 | High, narrow palate | |
| HP:0002827 | Hip dislocation | |
| HP:0000668 | Hypodontia | |
| HP:0000821 | Hypothyroidism | |
| HP:0001601 | Laryngomalacia | |
| HP:0000272 | Malar flattening | |
| HP:0002983 | Micromelia | |
| HP:0000639 | Nystagmus | |
| HP:0000520 | Proptosis | |
| HP:0000411 | Protruding ear | |
| HP:0000508 | Ptosis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002650 | Scoliosis | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3258
- This record as JSON: /data/d/3258.json