Aarskog–Scott syndrome
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Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies.[2] This condition mainly affects males, although females may have mild features of the syndrome.[3][4]
Quick Facts Other names, Specialty ...
Aarskog–Scott syndrome / Aarskog Syndrome | |
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Other names | Faciodigitogenital syndrome (FGDY), faciogenital dysplasia, Aarskog disease, Scott Aarskog syndrome[1] |
Specialty | Medical genetics |
Symptoms | Broad hands and feet, wide set eyes, low set ears, drooping lower lip[1] |
Causes | Genetic (X-linked recessive)[1] |
Deaths | 2018: 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. |
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