Rare Endocrinology News

Disease Profile

Wilson-Turner 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

Childhood

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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)

WTS; MRXS6; X-linked intellectual disability gynecomastia obesity;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Nervous System Diseases

Summary

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

Orpha Number: 3459

Definition
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

Epidemiology
Prevalence of WTS is not known. The syndrome has been described in two families to date: 14 males in the 3 most recent generations of the first family, and 7 males and 7 females in a 5-generation Dutch family.

Clinical description
Affected males were described as having severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, short stature (in the second family), small hands and feet, tapering fingers and facial dysmorphism including a small head, short ears, prominent supraorbital ridges, deep-set eyes, high malae, broad nasal tip, thin upper vermillion, and retrognathia. In obligate female carriers in the second family, a milder phenotype including learning disorders and recognizable facial features was reported. The described phenotype overlaps with Börjeson-Forssman-Lehmann syndrome, a form of X-linked intellectual disability. Differences between the two described families are small, but there is a possibility that they represent different clinical entities.

Etiology
The syndrome has been linked to a mutation in the consensus donor splice site of the histonedeacetylase 8 HDAC8 gene (Xq13).

Genetic counseling
X-linked recessive transmission and X-linked dominant inheritance with absence of male-to-male transmission have been reported.

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
Abnormal facial shape
Unusual facial appearance
0001999
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose

[ more ]

0000455
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Emotional lability
Emotional instability
0000712
Global developmental delay
0001263
Gynecomastia
Enlarged male breast
0000771
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Malar prominence
0010620
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Pes cavus
High-arched foot
0001761
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Poor speech
0002465
Prominent supraorbital ridges
Prominent brow
0000336
Short foot
Short feet
Small feet

[ more ]

0001773
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small hand
Disproportionately small hands
0200055
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows

[ more ]

0000574
Thin upper lip vermilion
Thin upper lip
0000219
Truncal obesity
0001956
30%-79% of people have these symptoms
Hypogonadotropic hypogonadism
0000044
5%-29% of people have these symptoms
Seizure
0001250
Specific learning disability
0001328
Percent of people who have these symptoms is not available through HPO
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal

[ more ]

0001344
Brachycephaly
Short and broad skull
0000248
Decreased muscle mass
0003199
Decreased testicular size
Small testes
Small testis

[ more ]

0008734
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Hypogonadism
Decreased activity of gonads
0000135
Kyphosis
Hunched back
Round back

[ more ]

0002808
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micropenis
Short penis
Small penis

[ more ]

0000054
Misalignment of teeth
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth

[ more ]

0000692
Muscular hypotonia
Low or weak muscle tone
0001252
Obesity
Having too much body fat
0001513
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Short ear
Short ears
0400005
X-linked recessive inheritance
0001419

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 Wilson-Turner syndrome. Click on the link to view a sample search on this topic.