ORPHA:324416
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome is a rare genetic disease characterized by symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome | |
| fr | Syndrome d'hypertrophie musculaire-hépatomégalie-polyhydramnios | |
| de | Muskelhypertrophie-Hepatomegalie-Polyhydramnion-Syndrom | |
| es | Síndrome de hipertrofia muscular-hepatomegalia-polihidramnios | |
| it | Sindrome ipertrofia muscolare, epatomegalia, polidramnios | |
| nl | Musculaire hypertrofie - hepatomegalie - polyhydramnion-syndroom | |
| pt | Hipertrofia muscular hepatomegália - polihidrâmnio | |
| pl | Przerost mięśni- hepatomegalia - wielowodzie | |
| cs | Syndrom zahrnující svalovou hypertrofii, hepatomegalii a polyhydramnion | |
| uk | Синдром мязової гіпертрофії-гепатомегалії-полігідрамніону | |
| zh | 肌肉肥大-肝肿大-羊水过多综合征 | |
| tr | Müsküler hipertrofi-hepatomegali-polihidraminoz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017932 | E | validated | |
| UMLS | C4751007 | 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 (2):
- 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
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22683912[PMID] | |
| 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
14 annotations · validated 2016-10-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002438 | Cerebellar malformation | |
| HP:0003560 | Muscular dystrophy | |
| HP:0007973 | Retinal dysplasia | |
| Very frequent (99-80%) | ||
| HP:0000238 | Hydrocephalus | |
| HP:0007700 | Ocular anterior segment dysgenesis | |
| HP:0000202 | Orofacial cleft | |
| HP:0007260 | Type II lissencephaly | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0000078 | Abnormality of the genital system | |
| HP:0004488 | Macrocephaly at birth | |
| Occasional (29-5%) | ||
| HP:0000519 | Developmental cataract | |
| HP:0000568 | Microphthalmia | |
| HP:0002085 | Occipital encephalocele | |
| Very rare (<4-1%) | ||
| HP:0000589 | Coloboma | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 2494887[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324416
- This record as JSON: /data/d/324416.json