Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

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Synonyms: CBL syndrome | Noonan syndrome-like disorder with JMML

A rare genetic polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead hypertelorism downslanting palpebral fissures ptosis low-set ears prominent philtrum and short neck with or without pterygium colli) developmental delay hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy ectodermal anomalies and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.

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 July 2024

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Advocacy Organizations

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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