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Disease Profile

Pillay syndrome

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.

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US Estimated

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Europe Estimated

Age of onset

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ICD-10

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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)

Ophthalmo-mandibulo-melic dysplasia; OMM syndrome

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2741

Definition
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.

Epidemiology
Three cases in one family have been described so far (two males, one female).

Clinical description
Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal.

Etiology
The causative gene has not yet been identified.

Genetic counseling
Autosomal dominant inheritance has been suggested.

Visit the Orphanet disease page for more resources.

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
80%-99% of people have these symptoms
Abnormality of bone mineral density
0004348
Aplasia/Hypoplasia of the radius
0006501
Blindness
0000618
Camptodactyly of finger
Permanent flexion of the finger
0100490
Corneal opacity
0007957
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Lateral humeral condyle aplasia
0006441
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Mesomelia
Disproportionately short middle portion of limb
0003027
Micromelia
Smaller or shorter than typical limbs
0002983
Obtuse angle of mandible
0005446
Radioulnar dislocation
0006439
Radioulnar synostosis
Fused forearm bones
0002974
Symphalangism affecting the phalanges of the hand
Fused finger bones of the hand
0009773
Synostosis of carpal bones
Fusion of wrist bones
0005048
Temporomandibular joint ankylosis
Freezing of jaw joint
0012478
Ulnar deviated club hands
0006055
5%-29% of people have these symptoms
Glaucoma
0000501
Megalocornea
Enlarged cornea
0000485
Percent of people who have these symptoms is not available through HPO
Abnormal thorax morphology
Abnormality of the chest
0000765
Autosomal dominant inheritance
0000006
Coxa valga
0002673
Decreased mobility 3rd-5th fingers
0006169
Fibular hypoplasia
Short calf bone
0003038
Opacification of the corneal stroma
0007759
Radial bowing
Bowing of outer large bone of the forearm
0002986

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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.