ORPHA:560
Marshall syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marshall syndrome | |
| fr | Syndrome de Marshall | |
| de | Marshall-Syndrom | |
| es | Síndrome de Marshall | |
| it | Sindrome di Marshall | |
| nl | Syndroom van Marshall | |
| pt | Síndrome Marshall | |
| pl | Zespół Marshalla | |
| cs | MRSHS syndrom | |
| uk | Синдром Маршалла | |
| zh | marshall综合征 | |
| tr | Marshall sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 154780 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007949 | E | validated | |
| MeSH | C536025 | E | validated | |
| UMLS | C0265235 | E | validated | |
| GARD | 6984 | 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 (10):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic diseases - ORPHA:93422Type 11 collagen-related bone disorder
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL11A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2186 | ENSG00000060718 | 120280 | 1p21.1 | collagen type XI alpha 1 chain |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 17236192[PMID]_19449424[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17236192[PMID]_19449424[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.
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HPO phenotypes
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000463 | Anteverted nares | |
| HP:0002829 | Arthralgia | |
| HP:0000248 | Brachycephaly | |
| HP:0000518 | Cataract | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0012368 | Flat face | |
| HP:0000316 | Hypertelorism | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000343 | Long philtrum | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000215 | Thick upper lip vermilion | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0004327 | Abnormal vitreous humor morphology | |
| HP:0000646 | Amblyopia | |
| HP:0002514 | Cerebral calcification | |
| HP:0000175 | Cleft palate | |
| HP:0001083 | Ectopia lentis | |
| HP:0002857 | Genu valgum | |
| HP:0000501 | Glaucoma | |
| HP:0000966 | Hypohidrosis | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0002738 | Hypoplastic frontal sinuses | |
| HP:0002758 | Osteoarthritis | |
| HP:0000520 | Proptosis | |
| HP:0000541 | Retinal detachment | |
| HP:0008070 | Sparse hair | |
| HP:0002684 | Thickened calvaria | |
| HP:0000505 | Visual impairment | |
| HP:0007773 | Vitreoretinopathy | |
| Occasional (29-5%) | ||
| HP:0002007 | Frontal bossing | |
| HP:0000218 | High palate | |
| HP:0000639 | Nystagmus | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/560
- This record as JSON: /data/d/560.json