Aarskog Syndrome
Fundraising campaign by
Samuel Martinez
-
US$280.00raised of $2,000.00 goal goal
No more donations are being accepted at this time. Please contact the campaign owner if you would like to discuss further funding opportunities
Campaign Story
There isn't much known about this disease.
NORD gratefully acknowledges Dr. Alfredo Orrico, Molecular Medicine and Genetics, Azienda Ospedaliera Universitaria Senese, Viale Bracci. Siena, and Clinical Genetics. USL SudEst. Misericordia Hospital. Grosseto, Italy, for assistance in the preparation of this report.
Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. Additionally, some types of cognitive disorders may occasionally be present. Up to now, the FGD1 gene on the X chromosome is the only gene known to be associated with Aarskog syndrome.
Signs & Symptoms
Aarskog syndrome primarily affects males. Affected boys exhibit a characteristic set of facial, skeletal, and genital abnormalities. Clinical signs may vary from person to person (clinical heterogeneity), even within families. Males with Aarskog syndrome often have a rounded face with a broad forehead. Additional characteristic facial features include widely spaced eyes (ocular hypertelorism), drooping (ptosis) of the eyelids, downwardly slanting eyelid folds (palpebral fissures), a small nose with nostrils that are flared forward (anteverted nares), an underdeveloped upper jawbone (maxilliary hypoplasia), and a widow’s peak. Affected individuals may also have an abnormally long groove in the upper lip (philtrum) and a broad nasal bridge.
Need help for medical bills. Thank you so much.
Organizer
- Samuel Martinez
- Campaign Owner
Donors
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018
No updates for this campaign just yet
Donors & Comments
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018
- Guest
- Donated on Mar 23, 2018