Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Asthma

Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.


Total: 2

                       


(per page)
PMID (PMCID)
19545651
 MIXED_SAMPLE Adult
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.
Zechner U, Kohlschmidt N, Kempf O, Gebauer K, Haug K, Engels H, Haaf T, Bartsch O.
Eur J Med Genet. 2009;52(5):306-10.
We report a familial Sotos syndrome in two children, boy and girl, aged 17 and 8 years, and in their 44 year old mother, who displayed normal intelligence at adult age, but suffered from insulin dependent diabetes mellitus, bronchial asthma, and severe lipedema.
19545651
 MIXED_SAMPLE Adult
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.
Zechner U, Kohlschmidt N, Kempf O, Gebauer K, Haug K, Engels H, Haaf T, Bartsch O.
Eur J Med Genet. 2009;52(5):306-10.
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.