Aarskog syndrome
(Redirected from Aarskog-Scott syndrome)
Alternate names[edit | edit source]
Faciodigitogenital syndrome (FGDY), faciogenital dysplasia, Aarskog disease, Scott Aarskog syndrome
Symptoms[edit | edit source]
Broad hands and feet, wide set eyes, low set ears, drooping lower lip[1]
Causes[edit | edit source]
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[edit | edit source]
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?[edit | edit source]
X-linked recessive inheritance relates to conditions associated with mutations in genes on the X chromosome.
How are x-linked conditions inherited?[edit | edit source]
- 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[edit | edit source]
- NIH info on Aarskog syndrome
- Rare diseases info on Aarskog syndrome
- Medline plus on Aarskog syndrome
- Aarskog–Scott syndrome, detailed up-to-date information in OMIM (Online Mendelian Inheritance in Man)
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- ↑ Cite error: Invalid
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