ORPHA:2491
Müllerian duct anomalies-limb anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Müllerian duct anomalies-limb anomalies syndrome | |
| fr | Syndrome d'anomalies des membres-anomalies des canaux de Müller | |
| de | Syndrom der Müller-Gang-Anomalien mit Extremitätenanomalien | |
| es | Síndrome de anomalías en los conductos mullerianos-anomalías de las extremidades | |
| it | Anomalie del dotto mülleriano - anomalie degli arti | |
| nl | Anomalieën van gang van Müller - ledemaatanomalieën-syndroom | |
| pt | Síndrome de anomalias dos canais mullerianos-hipomelia | |
| pl | Wady przewodu Mullera - wady kończyn | |
| cs | Syndrom zahrnující anomálie Mulleriánského duktu a končetin | |
| uk | Синдром аномалії Мюллерової протоки - аномалій кінцівок | |
| zh | 苗勒管畸形-肢体畸形综合征 | |
| tr | Müllerian kanal anomalileri-ekstremite anomalileri sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146160 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007795 | E | validated | |
| UMLS | C4274837 | E | validated | |
| GARD | 2908 | 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: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:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases - ORPHA:180148Syndromic uterovaginal malformation
rare gynecological and obstetric diseases
No children.
4
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 | 5 cases | Worldwide | Case(s) | Validated | 3706400[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3706400[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000252 | Microcephaly | |
| HP:0002983 | Micromelia | |
| HP:0005792 | Short humerus | |
| HP:0004322 | Short stature | |
| HP:0001171 | Split hand | |
| HP:0003762 | Uterus didelphys | |
| Occasional (29-5%) | ||
| HP:0000821 | Hypothyroidism | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000486 | Strabismus | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2491
- This record as JSON: /data/d/2491.json