Noonan syndrome-like disorder with loose anagen hair

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Noonan syndrome-like disorder with loose anagen hair

Synonyms: Mazzanti syndrome | NS/LAH

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Noonan syndrome-like disorder with loose anagen hair?

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Advocacy Organizations

Lymphangiomatosis & Gorham’s Disease Alliance

The mission of the LGDA is to bring hope to and improve the quality of life of patients diagnosed with generalized lymphatic anomaly (GLA), kaposiform lymphangiomatosis (KLA), Gorham-Stout disease (GSD) and central conducting lymphatic anomaly (CCLA) through support networks, education, research and advocacy.

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

RASopathies Network

RASopathies are a group of genetic syndromes that may be as common as 1:1000. The syndromes RASopathies Network focuses on include: cardio-facio-cutaneous (CFC), Costello (CS), LEOPARD/NSML, Neurofibromatosis type 1 (NF1), and Noonan (NS). Our mission is to advance research to improve the quality of life for RASopathy families by bringing together families, clinicians and scientists.

Clinical Trials

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