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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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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
Autosomal recessive inheritance
0000007
Cleft palate
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 hypotonia
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
Micrognathia
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 polydactyly
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
Protein-losing enteropathy
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.