Severe myopia-generalized joint laxity-short stature syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe myopia-generalized joint laxity-short stature syndrome | |
| fr | Syndrome de myopie sévère-hyperlaxité articulaire généralisée-petite taille | |
| de | Schwere Myopie-generalisierte Überstreckbarkeit der Gelenke-Kleinwuchs-Syndrom | |
| es | Síndrome de miopía grave-laxitud articular generalizada-talla baja | |
| it | Sindrome grave miopia-lassità articolare generalizzata-bassa statura | |
| nl | Ernstige myopie - gegeneraliseerde gewrichtslaxiteit - kleine gestalte-syndroom | |
| pt | Síndrome de miopia grave-hipermobilidade articular generalizada-baixa estatura | |
| pl | Zespół ciężkiej miopatii-uogólnionej nadmiernej ruchomości stawów-niskiego wzrostu | |
| cs | Syndrom zahrnující těžkou krátkozrakost, generalizovanou hypermobilitu kloubů a malý vzrůst | |
| uk | Синдром тяжкої міопії-генералізованої тугорухливості суглобів-низькорослості | |
| zh | 重度近视-全身关节松弛-身材矮小综合征 | |
| tr | Ağır miyopi-jeneralize eklem gevşekliği-kısa boy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617662 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | attributed | validated |
| MONDO | 0060556 | E | validated | |
| UMLS | C4540020 | 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 (2):
- ORPHA:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GZF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15808 | ENSG00000125812 | 613842 | 20p11.21 | GDNF inducible zinc finger protein 1 | 28475863[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 28475863[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28475863[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/527450
- This record as JSON: /data/d/527450.json