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Aarskog syndrome

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Alternate names

Faciodigitogenital syndrome (FGDY), faciogenital dysplasia, Aarskog disease, Scott Aarskog syndrome

Symptoms

Broad hands and feet, wide set eyes, low set ears, drooping lower lip[1]

Causes

Genetic (X-linked recessive)

An x-linked condition associated in a subset of cases with mutation(s) in the fgd1 gene, encoding a complex signaling protein containing fyve, rhogef, and ph domains.

Clinical features

The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay.

What are x-linked conditions?

X-linked recessive inheritance relates to conditions associated with mutations in genes on the X chromosome.

How are x-linked conditions inherited?

  • A male carrying such a mutation will be affected, because he carries only one X chromosome.
  • A female carrying a mutation in one gene, with a normal gene on the other X chromosome, is generally unaffected.

External links

PubMed
UpToDate
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  1. Cite error: Invalid <ref> tag; no text was provided for refs named GARD2018
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