Noonan syndrome-like disorder with loose anagen hair

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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 http://www.orphadata.org. Data version April 2026

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Noonan syndrome-like disorder with loose anagen hair?

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Advocacy Organizations

HeartCharged

Ending preventable deaths from undiagnosed heart conditions and sudden cardiac arrest, especially in young people, and providing patient-to-patient support.

website Location: Global

PPP2CA Pathways

PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.

website Location: Global Global

RareDNA Foundation

Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.

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Clinical Trials

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