Aarskog syndrome

Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face.[1] Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 ...1

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Symptoms of Aarskog syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Causes List for Aarskog syndrome

Some possible causes of Aarskog syndrome or similar disorders may include:2

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Types of Aarskog syndrome

Some types of this condition may include:3 Types of Aarskog syndrome:

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Genetics of Aarskog syndrome

Inheritance: Aarskog syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one ...4

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Names and Terminology

Other Names: Aarskog Scott syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia; Aarskog Scott syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia; Aarskog disease; FGDY; Scott Aarskog syndrome ...Source: GARD (NIH) ...5

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  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 4775/ aarskog-syndrome
  2. Source: Algorithmically Generated List
  3. Source: NCI Thesaurus
  4. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 4775/ aarskog-syndrome
  5. ibid.

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