Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. Disease data Classification Malformation syndrome Synonyms Mazzanti syndrome NS/LAH Zespół Tosti NS/LAH ORPHA code 2701 OMIM code 617506 ICD10 code Q87.1 ICD11 code LD2F.1Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl