GMS syndrome
Synonyms: Goniodysgenesis-intellectual disability-short stature syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GMS syndrome | Goniodysgenesis-intellectual disability-short stature syndrome |
| fr | Syndrome GMS | Syndrome de goniodysgénésie-déficience intellectuelle-petite taille |
| de | GMS-Syndrom | Goniodysgenesie-Intelligenzminderung-Kleinwuchs-Syndrom |
| es | Síndrome GMS | Síndrome de goniodisgenesia-discapacidad intelectual-talla baja |
| it | Sindrome GMS | Sindrome goniodisgenesia-disabilità intellettiva-bassa statura |
| nl | GMS-syndroom | Goniodysgenesie - intellectuele achterstand - kleine gestalte-syndroom |
| pt | Síndrome GMS | Síndrome de disgenesia gonadal-perturbação do desenvolvimento intelectual-baixa estatura |
| pl | Zespół GMS | Goniodysgeneza - niepełnosprawność intelektualna - niski wzrost |
| cs | GMS syndrom | Syndrom zahrnující goniodysgenezi, mentální retardaci a nízký vzrůst |
| uk | Синдром GMS | Синдром гоніодисгенезу - інтелектуальної недостатності - низького зросту |
| zh | GMS综合征 | 前房角发育不全-智力障碍-身材矮小综合征 |
| tr | GMS sendromu | Gonyodisgenezi-zihinsel yetersizlik-kısa boy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 138770 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007679 | E | validated | |
| MeSH | C564214 | E | validated | |
| UMLS | C1841854 | E | validated | |
| GARD | 2523 | 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 (3):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 1 families | Worldwide | Family(ies) | Validated | 1308345[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1308345[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000558 | Rieger anomaly | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000369 | Low-set ears | |
| HP:0004467 | Preauricular pit | |
| HP:0001622 | Premature birth | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0005180 | Tricuspid regurgitation | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2090
- This record as JSON: /data/d/2090.json