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Disease Profile
Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly; Urioste syndrome; Renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] |
0003270 |
| Alveolar ridge overgrowth |
Overgrowth of gum ridge
|
0009085 |
| Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
| 0000007 | ||
|
Cleft roof of mouth
|
0000175 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Flat occiput | 0005469 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Hepatic failure |
Liver failure
|
0001399 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hydronephrosis | 0000126 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypertrichosis | 0000998 | |
| Hypocalcemia |
Low blood calcium levels
|
0002901 |
| Hypoproteinemia |
Decreased protein levels in blood
|
0003075 |
| Inguinal hernia | 0000023 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
| Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
| Pancreatic lymphangiectasis | 0006273 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] |
0001162 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
| 0002243 | ||
| Pulmonary lymphangiectasia | 0006521 | |
| Redundant neck skin |
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck
[ more ] |
0005989 |
| Short neck |
Decreased length of neck
|
0000470 |
| Smooth philtrum | 0000319 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ] |
0000474 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Thyroid lymphangiectasia | 0008229 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Ventriculomegaly | 0002119 | |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. Click on the link to view a sample search on this topic.