Noonan syndrome-like disorder with loose anagen hair

Orpha code: 2701OMIM code: 617506

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Mazzanti syndrome
NS/LAH
Zespół Tosti
NS/LAH
Kod ORPHA
2701
Kod OMIM
617506
Kod ICD10
Q87.1
Kod ICD11
LD2F.1Y

No additional description.

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