ORPHA:420179
Malan overgrowth syndrome
Synonyms: Sotos syndrome 2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Infancy
- Status
- active
A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Malan overgrowth syndrome | Sotos syndrome 2 |
| fr | Syndrome de croissance excessive de Malan | |
| de | Malan-Großwuchs-Syndrom | Malan-Syndrom · Sotos-Syndrom Typ 2 |
| es | Síndrome de sobrecrecimiento de Malan | Síndrome de Sotos 2 |
| it | Sindrome da iperaccrescimento di Malan | Sindrome di Sotos 2 |
| nl | Overgroeisyndroom van Malan | Syndroom van Sotos 2 |
| pt | Síndrome de sobrecrescimento de Malan | |
| pl | Zespół nadmiernego wzrostu Malana | Zespół Sotosa 2 |
| cs | Malanův syndrom s makrosomií | Malanové syndrom nadměrného vzrůstu |
| uk | Синдром надмірного росту Малану | Синдром Сотоса 2 |
| zh | Malan过度生长综合征 | 索托斯综合征2型 |
| tr | Malan aşırı büyüme sendromu | Sotos sendromu 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614753 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0013885 | E | validated | |
| UMLS | C3553660 | 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 (3):
- 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: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]_22301465[PMID]_25118028[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 25118028[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25118028[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
38 annotations · validated 2019-07-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| Frequent (79-30%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000348 | High forehead | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002162 | Low posterior hairline | |
| HP:0000256 | Macrocephaly | |
| HP:0000275 | Narrow face | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000300 | Oval face | |
| HP:0000767 | Pectus excavatum | |
| HP:0011220 | Prominent forehead | |
| HP:0003100 | Slender long bone | |
| HP:0000486 | Strabismus | |
| HP:0000098 | Tall stature | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002131 | Episodic ataxia | |
| HP:0000324 | Facial asymmetry | |
| HP:0002007 | Frontal bossing | |
| HP:0000218 | High palate | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0002076 | Migraine | |
| HP:0000160 | Narrow mouth | |
| HP:0000639 | Nystagmus | |
| HP:0007766 | Optic disc hypoplasia | |
| HP:0000543 | Optic disc pallor | |
| HP:0001357 | Plagiocephaly | |
| HP:0000307 | Pointed chin | |
| HP:0030799 | Scaphocephaly | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26193383[PMID]_25118028[PMID]_20673863[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/420179
- This record as JSON: /data/d/420179.json