National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Woodhouse Sakati syndrome



Other Names:
Hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities; Woodhouse-Sakati syndrome; Diabetes-hypogonadism-deafness-intellectual disability syndrome
Categories:

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

Orpha Number: 3464

Definition
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

Epidemiology
Approximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far.

Clinical description
The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.

Etiology
Woodhouse-Sakati syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function.

Genetic counseling
The disease is transmitted in an autosomal recessive manner.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2009

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal spermatogenesis 0008669
Abnormal T-wave 0005135
Alopecia
Hair loss
0001596
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
0100840
Bilateral sensorineural hearing impairment 0008619
Choreoathetosis 0001266
Decreased serum estradiol 0008214
Decreased serum testosterone level
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ]
0040171
Decreased testicular size
Small testes
Small testis
[ more ]
0008734
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Dysarthria
Difficulty articulating speech
0001260
Dystonia 0001332
Growth hormone deficiency 0000824
Hyperinsulinemia 0000842
Hyperlipidemia
Elevated lipids in blood
0003077
Hypogonadism
Decreased activity of gonads
0000135
Hypoplasia of the fallopian tube
Underdeveloped fallopian tube
0008697
Hypoplasia of the uterus
Small uterus
Underdeveloped uterus
[ more ]
0000013
Hypothyroidism
Underactive thyroid
0000821
Insulin-resistant diabetes mellitus
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ]
0000831
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
0001256
Mental deterioration
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ]
0001268
Micropenis
Short penis
Small penis
[ more ]
0000054
Osteopenia 0000938
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure
[ more ]
0008209
Protruding ear
Prominent ear
Prominent ears
[ more ]
0000411
Streak ovary 0010464
5%-29% of people have these symptoms
Anodontia
Failure of development of all teeth
0000674
Hallucinations
Hallucination
Sensory hallucination
[ more ]
0000738
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
0000426
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
0000448
Psychosis 0000709
Scaling skin
flaking skin
peeling skin
scaly skin
[ more ]
0040189
Triangular face
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
0000325
Percent of people who have these symptoms is not available through HPO
Abnormality of extrapyramidal motor function 0002071
Autosomal recessive inheritance 0000007
Decreased serum insulin-like growth factor 1 0030353
Diabetes mellitus 0000819
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
0002213
Hypergonadotropic hypogonadism 0000815
Hypogonadotropic hypogonadism 0000044
Increased thyroid-stimulating hormone level 0002925
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Sensorineural hearing impairment 0000407
Sparse hair 0008070
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease


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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Woodhouse Sakati syndrome. This website is maintained by the National Library of Medicine.

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 Woodhouse Sakati syndrome. Click on the link to view a sample search on this topic.

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