ORPHA:2437
Czeizel-Losonci syndrome
historical
Synonyms: Split hand with obstructive uropathy, spina bifida and diaphragmatic defects · Split hand-urinary anomalies-spina bifida syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- historical
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Czeizel-Losonci syndrome | Split hand with obstructive uropathy, spina bifida and diaphragmatic defects · Split hand-urinary anomalies-spina bifida syndrome |
| fr | Syndrome de Czeizel-Losonci | Syndrome de mains fendues-uropathie-spina bifida-diaphragme anormal |
| de | Czeizel-Losonci-Syndrom | Spalthand - Harnwegsanomalien - Spina bifida · Spalthand mit obstruktiver Uropathie, Spina bifida und Zwerchfell-Defekt |
| es | Síndrome de Czeizel-Losonci | Mano hendida con uropatía obstructiva, espina bífida y defectos diafragmáticos · Mano hendida-anomalías urinarias-espina bífida |
| it | Sindrome di Czeizel-Losonci | Schisi della mano - anomalie urinarie - spina bifida · Schisi della mano con uropatia ostruttiva, spina bifida e anomalie del diaframma |
| nl | Syndroom van Czeizel-Losonci | Gespleten hand - urineweganomalieën - spina bifida-syndroom · Gespleten hand met obstructieve uropathie, spina bifida en diafragmadefecten |
| pt | Síndrome Czeizel-Losonci | Síndrome de ectrodactilia das mãos com uropatia obstrutiva, espinha bífida e defeitos diafragmáticos · Síndrome de ectrodactilia das mãos-anomalias urinárias-espinha bífida |
| pl | Zespół Czeizela i Losonci | Rozszczep dłoni - wady układu moczowego - rozszczep kręgosłupa · Rozszep dłoni z uropatią obstrukcyjną, rozszczepem kręgosłupa i wadami przepony |
| cs | Czeizelův-Losonciho syndrom | Rozštěp ruky s obstrukční uropatií, spina bifida a defekty bránice · Syndrom zahrnující rozštěp ruky, anomálie močových cest a spina bifida · Czeizel-Losonciho syndrom |
| uk | Синдром Цейзеля-Лосончі | Розщеплена рука з обструктивною уропатією, розщепленням хребта та дефектами діафрагми · Синдром роздвоєння кисті - аномалій сечовивідної системи - spina bifida |
| zh | Czeizel-Losonci综合征 | 分裂手伴尿路梗阻，脊柱裂和膈肌缺陷 |
| tr | Czeizel-Losonci sendromu | Bölünmüş el-üriner anomaliler-spina bifida sendromu · Obstrüktif üropati, spina bifida ve diyaframatik defektleri olan ayrık el |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 183802 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008467 | E | validated | |
| MeSH | C566662 | E | validated | |
| UMLS | C1866739 | E | validated | |
| GARD | 4969 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital 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 | 3 cases | Worldwide | Case(s) | Validated | 3308683[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3308683[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
34 annotations · validated 2019-03-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000079 | Abnormality of the urinary system | |
| HP:0100257 | Ectrodactyly | |
| HP:0000126 | Hydronephrosis | |
| HP:0025193 | Posterolateral diaphragmatic hernia | |
| HP:0002414 | Spina bifida | |
| HP:0001839 | Split foot | |
| HP:0012300 | Ureteral agenesis | |
| Occasional (29-5%) | ||
| HP:0010704 | 1-2 finger syndactyly | |
| HP:0001233 | 2-3 finger syndactyly | |
| HP:0006097 | 3-4 finger syndactyly | |
| HP:0045026 | Abnormal mediastinum morphology | |
| HP:0009112 | Absent left hemidiaphragm | |
| HP:0100760 | Clubbing of toes | |
| HP:0008676 | Congenital megaureter | |
| HP:0001651 | Dextrocardia | |
| HP:0000218 | High palate | |
| HP:0001234 | Hitchhiker thumb | |
| HP:0000238 | Hydrocephalus | |
| HP:0008589 | Hypoplastic helices | |
| HP:0002557 | Hypoplastic nipples | |
| HP:0000347 | Micrognathia | |
| HP:0002475 | Myelomeningocele | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008593 | Prominent antitragus | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000340 | Sloping forehead | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0010539 | Thin calvarium | |
| HP:0002944 | Thoracolumbar scoliosis | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0006610 | Wide intermamillary distance | |
Annotation source: 18935989[PMID]_8074153[PMID]_3308683[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2437
- This record as JSON: /data/d/2437.json