Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Synonyms: Urioste syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Müllerian derivatives-lymphangiectasia-polydactyly syndrome | Urioste syndrome |
| fr | Syndrome de dérivés müllériens-lymphangiectasies-polydactylie | Syndrome de Urioste |
| de | Müller-Gang-Derivate-Lymphangiektasie-Polydaktylie-Syndrom | |
| es | Síndrome de derivados mullerianos-linfangiectasia-polidactilia | |
| it | Sindrome derivati mülleriani-linfangectasia-polidattilia | |
| nl | Mülleriaanse derivaten - lymfangiëctasie - polydactylie-syndroom | Syndroom van Urioste |
| pt | Síndrome de derivados müllerianos-linfangiectasia-polidactilia | Síndrome Urioste |
| pl | Pochodne przewodu Mullera - limfangiektazja - polidaktylia | = en |
| cs | Syndrom zahrnující deriváty Müllerova vývodu, lymfangiektázii a polydaktylii | = en |
| uk | Синдром похідних мюллерових проток-лімфангіектазії-полідактилії | Синдром урикозу |
| zh | 苗勒管发育异常-淋巴管扩张-多指畸形综合征 | Urioste 综合征 |
| tr | Müllerian türevleri-lenfanjiyektazi-polidaktili sendromu | Urioste sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235255 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009333 | E | validated | |
| MeSH | C536478 | E | validated | |
| UMLS | C1856159 | E | validated | |
| GARD | 5430 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system 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:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 8256813[PMID]_11746031[PMID]_11746030[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8256813[PMID]_11746031[PMID]_11746030[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.
HPO phenotypes
41 annotations · validated 2017-08-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0012210 | Abnormal renal morphology | |
| HP:0011027 | Abnormality of the fallopian tube | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0001090 | Abnormally large globe | |
| HP:0009085 | Alveolar ridge overgrowth | |
| HP:0001541 | Ascites | |
| HP:0000455 | Broad nasal tip | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0005469 | Flat occiput | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000218 | High palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0000998 | Hypertrichosis | |
| HP:0002901 | Hypocalcemia | |
| HP:0003075 | Hypoproteinemia | |
| HP:0000023 | Inguinal hernia | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000774 | Narrow chest | |
| HP:0006273 | Pancreatic lymphangiectasis | |
| HP:0001561 | Polyhydramnios | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0006521 | Pulmonary lymphangiectasia | |
| HP:0005989 | Redundant neck skin | |
| HP:0000470 | Short neck | |
| HP:0000319 | Smooth philtrum | |
| HP:0001744 | Splenomegaly | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000148 | Vaginal atresia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0000054 | Micropenis | |
| HP:0002243 | Protein-losing enteropathy | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 8256813[PMID]_11746031[PMID]_11746030[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1655
- This record as JSON: /data/d/1655.json