Crandall syndrome

Title

Other Names:

Alopecia deafness hypogonadism

Categories:

Congenital and Genetic Diseases; Skin Diseases

Summary Summary

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

Orpha Number: 202

Disease definition

This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.

Visit the Orphanet disease page for more resources.

Last updated: 8/21/2007

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Alopecia	Hair loss	0001596
Aplasia/Hypoplasia of the eyebrow	Absence of eyebrow Lack of eyebrow Missing eyebrow [ more ]	0100840
Hypogonadism	Decreased activity of gonads	0000135
Pili torti	Flattened and twisted hair	0003777
Sensorineural hearing impairment		0000407
Sparse body hair		0002231
30%-79% of people have these symptoms
Abnormality of the eye	Abnormal eye	0000478
Abnormality of the testis		0000035
Brittle hair		0002299
Fine hair	Fine hair shaft Fine hair texture Thin hair shaft Thin hair texture [ more ]	0002213
Hypoplasia of penis	Underdeveloped penis	0008736

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Last updated: 5/1/2018

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

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