Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome | |
| fr | Syndrome de microcephalie-petite taille-déficience intellectuelle-dysmorphie faciale | |
| de | Mikrozephalie-Kleinwuchs-Intelligenzminderung-Gesichtsdysmorphie-Syndrom | |
| es | Síndrome de microcefalia-talla baja-discapacidad intelectual-dismorfia facial | |
| it | Sindrome microcefalia-bassa statura-disabilità intellettiva-dismorfismi facciali | |
| nl | Microcefalie - kleine gestalte - intellectuele achterstand - faciale dysmorfie-syndroom | |
| pt | Síndrome de microcefalia-baixa estatura-perturbação do desenvolvimento intelectual-dismorfia facial | |
| pl | Zespół małogłowie - niski wzrost - niepełnosprawność intelektualna - dysmorfia twarzy | |
| cs | Syndrom zahrnující mikrocefalii, malý vzrůst, mentální retardaci a faciální dysmorfismus | |
| uk | Синдром мікроцефалії-низькорослості-розумової відсталості-дисморфізму обличчя | |
| zh | 小头畸形-身材矮小-智力障碍-面部畸形综合征 | |
| tr | Mikrosefali-kısa boy-zihinsel yetersizlik-fasiyal dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0018494 | E | validated | |
| UMLS | C4749647 | 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 (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| QARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9751 | ENSG00000172053 | 603727 | 3p21.31 | glutaminyl-tRNA synthetase 1 | 28620870[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24709618[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24709618[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/423306
- This record as JSON: /data/d/423306.json