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Disease Profile

Yemenite deaf-blind hypopigmentation 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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)

Warburg Thomsen syndrome; Yemenite (Warburg) deaf-blind hypopigmentation syndrome

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Skin Diseases

Summary

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

Orpha Number: 3214

Definition
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.

Epidemiology
The syndrome was described in 1990 in two patients from the same Yemenite family.

Clinical description
A brother and sister were described as having cutaneous patchy hypoand hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. Ocular manifestations were microcornea, coloboma, and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous.

Etiology
The cause of this syndrome has not been determined.

Genetic counseling
The inheritance pattern appears to be autosomal recessive.

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
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Freckling
0001480
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypopigmentation of hair
Loss of hair color
0005599
Hypopigmented skin patches
Patchy loss of skin color
0001053
Macrodontia
Increased width of tooth
0001572
Multiple cafe-au-lait spots
0007565
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Sensorineural hearing impairment
0000407
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
30%-79% of people have these symptoms
Anterior synechiae of the anterior chamber
0011483
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
High forehead
0000348
Iris coloboma
Cat eye
0000612
Iris hypopigmentation
Light eye color
0007730
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Short philtrum
0000322
5%-29% of people have these symptoms
Abnormal size of the palpebral fissures
Abnormal size of the opening between the eyelids
0200007
High hypermetropia
Severe farsightedness
Severe long-sightedness

[ more ]

0008499
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Hypertonia
0001276
Taurodontia
0000679
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Numerous pigmented freckles
0007587
Patchy hypoand hyperpigmentation
0007509
Severe sensorineural hearing impairment
0008625
White forelock
White part of hair above forehead
0002211

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Yemenite deaf-blind hypopigmentation syndrome. Click on the link to view a sample search on this topic.