Noonan syndrome-like disorder with loose anagen hair

Orpha code: 2701OMIM code: 617506

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

No additional description.

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