Cleidorhizomelic syndrome
historical
Synonyms: Rhizomelic shortness with clavicular defect · Wallis-Zieff-Goldblatt syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleidorhizomelic syndrome | Rhizomelic shortness with clavicular defect · Wallis-Zieff-Goldblatt syndrome |
| fr | Syndrome cléido-rhizomélique | Syndrome de Wallis-Zieff-Goldblatt |
| de | Cleido-rhizomeles Syndrom | Rhizomeler Kleinwuchs mit Defekt der Klavikula · Wallis-Zieff-Goldblatt-Syndrom |
| es | Síndrome cleidorizomélico | Acortamiento rizomélico con defecto clavicular · Síndrome de Wallis-Zieff-Goldblatt |
| it | Sindrome cleidorizomelica | Accorciamento rizomelico con difetto della clavicola · Sindrome di Wallis-Zieff-Goldblatt |
| nl | Cleidorhizomeel syndroom | Rhizomele kleine gestalte met claviculair defect · Syndroom van Wallis-Zieff-Goldblatt |
| pt | Síndrome cleido-rizomélico | Síndrome Wallis-Zieff-Goldblatt |
| pl | Zespół obojczykowo-rizomeliczny | Niskorosłość rizomeliczna z wadą obojczyka · Zespół Wallisa, Zieffiego i Goldblatta |
| cs | Kleidorhizomelický syndrom | Rhizomelické zkrácení s defektem klavikuly · Wallisův-Zieffův-Goldblattův syndrom · Wallis-Zieff-Goldblattův syndrom |
| uk | Клейдоризомелічний синдром | Різомелічне вкорочення з дефектом ключиці · Синдром Волліса-Зіффа-Гольдблата |
| zh | 锁骨肩带综合征 | 肢根短缩伴锁骨缺损 |
| tr | Kleidorizomelik sendrom | Wallis-Zieff-Goldblatt sendromu · Klaviküler defekt ile seyreden rizomelik kısalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119650 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | attributed | validated |
| MONDO | 0007341 | E | validated | |
| MeSH | C536428 | E | validated | |
| UMLS | C1861515 | E | validated | |
| GARD | 5532 | 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:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
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 | 3239579[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3239579[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.
HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000889 | Abnormality of the clavicle | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0008905 | Rhizomelia | |
| HP:0004220 | Short middle phalanx of the 5th finger | |
| Frequent (79-30%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1453
- This record as JSON: /data/d/1453.json