Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Synonyms: KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia athelia or hypoplastic nipples branchial arch abnormalities external ear malformations hearing loss thyroid abnormalities delayed or absent pubertal development and short stature. Developmental delay / intellectual disability are variably reported.
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 May 2024
Newly diagnosed with
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
For a list of clinical trials in this disease area, please click here.