Aarskog–Scott syndrome

Aarskog–Scott syndrome / Aarskog Syndrome
Other namesFaciodigitogenital syndrome (FGDY), faciogenital dysplasia, Aarskog disease, Scott Aarskog syndrome
SpecialtyMedical genetics 
SymptomsBroad hands and feet, wide set eyes, low set ears, drooping lower lip
CausesGenetic (X-linked recessive)
Deaths2018: two deaths, one patient aged 66 years, another aged 62 (also diagnosed with Non-Hodgkin lymphoma). 2019: one death, aged 54. All males from the same family.
Named after

Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild features of the syndrome.

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