ORPHA:561
Marshall-Smith syndrome
Synonyms: Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marshall-Smith syndrome | Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome |
| fr | Syndrome de Marshall-Smith | Syndrome de maturation osseuse accélérée-dysmorphie faciale-retard staturo-pondéral |
| de | Marshall-Smith-Syndrom | Beschleunigte Knochenalterung - Gesichtsanomalien - Gedeihstörungen |
| es | Síndrome de Marshall-Smith | Síndrome de maduración esquelética acelerada-dismorfia facial-falta de crecimiento |
| it | Sindrome di Marshall-Smith | Maturazione ossea accelerata - facies peculiare - ritardo di crescita |
| nl | Syndroom van Marshall-Smith | Versnelde skeletmaturatie - faciale dysmorfie - groeifalen-syndroom |
| pt | Síndrome Marshall-Smith | Síndrome de maturação óssea acelerada-dismorfia facial-má evolução estaturoponderal |
| pl | Zespół Marshalla i Smitha | Zespół zaawansowanego wieku kostnego, dysmorfii twarzy i niedoboru wzrostu i masy ciała |
| cs | Marshallův-Smithův syndrom | Syndrom zahrnující akcelerovaný kosterní vývoj, podivnou tvář a poruchu prospívání · Marshall-Smithův syndrom |
| uk | Синдром Маршалла-Сміта | Синдром прискореного дозрівання скелета - дизморфізму обличчя - неспроможності до розвитку |
| zh | Marshall-Smith综合征 | 加速期骨骼成熟-面部畸形-发育落后综合征 |
| tr | Marshall-Smith sendromu | Hızlandırılmış iskelet olgunlaşması-fasiyal dismorfizm-gelişme bozukluğu sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602535 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | index | validated |
| MONDO | 0011244 | E | validated | |
| MeSH | C536026 | E | validated | |
| UMLS | C0265211 | E | validated | |
| GARD | 6985 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- 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 - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NFIX | Disease-causing germline mutation(s) in | Assessed | HGNC:7788 | ENSG00000008441 | 164005 | 19p13.13 | nuclear factor I X | 20673863[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 74 cases | Worldwide | Case(s) | Validated | 34925682[PMID]_ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
29 annotations · validated 2017-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000463 | Anteverted nares | |
| HP:0006487 | Bowing of the long bones | |
| HP:0001508 | Failure to thrive | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0011220 | Prominent forehead | |
| HP:0000520 | Proptosis | |
| HP:0000278 | Retrognathia | |
| HP:0003100 | Slender long bone | |
| HP:0000963 | Thin skin | |
| Frequent (79-30%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000316 | Hypertelorism | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0000194 | Open mouth | |
| HP:0010808 | Protruding tongue | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002650 | Scoliosis | |
| HP:0003196 | Short nose | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000453 | Choanal atresia | |
| HP:0001363 | Craniosynostosis | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000648 | Optic atrophy | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/561
- This record as JSON: /data/d/561.json