Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness, and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose, and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia, and intention tremor. Brain imaging may show white matter abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome | |
| fr | Syndrome de déficience intellectuelle-faiblesse musculaire-petite taille-dysmorphie faciale | |
| de | Intelligenzminderung-Muskelschwäche-Kleinwuchs-Gesichtsdysmorphie-Syndrom | |
| es | Síndrome de discapacidad intelectual-debilidad muscular-talla baja-dismorfia facial | |
| it | Sindrome disabilità intellettiva-debolezza muscolare-bassa statura-dismorfismi facciali | |
| nl | Intellectuele achterstand - spierzwakte - kleine gestalte - faciale dysmorfie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-fraqueza muscular-baixa estatura-dismorfia facial | |
| pl | Zespół niepełnosprawności intelektualnej, osłabienia mięśni, niskiego wzrostu i dysmorfii twarzy | |
| cs | Syndrom zahrnující mentální retardaci, svalovou slabost, malý vzrůst a faciální dysmorfismus | |
| uk | Синдром інтелектуальної недостатності-мязової слабкості-низькорослості-дисморфізму обличчя | |
| zh | 智力障碍-肌肉无力-身材矮小-面部畸形综合征 | |
| tr | zihinsel yetersizlik-kas zayıflığı-kısa boy-yüz dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018711 | E | validated | |
| UMLS | C5681124 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 26192890[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26192890[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
24 annotations · validated 2019-12-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010761 | Broad columella | |
| HP:0000670 | Carious teeth | |
| HP:0000490 | Deeply set eye | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001249 | Intellectual disability | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0001324 | Muscle weakness | |
| HP:0000160 | Narrow mouth | |
| HP:0000189 | Narrow palate | |
| HP:0001845 | Overlapping toe | |
| HP:0001763 | Pes planus | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000508 | Ptosis | |
| HP:0000331 | Short chin | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0001337 | Tremor | |
Annotation source: 26192890[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457365
- This record as JSON: /data/d/457365.json