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 September 2023.
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Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome?
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Advocacy Organizations
HypoPARAthyroidism Association, Inc
To improve lives of people impacted by HypoPARAthyroisism through education, support research and advocacy.
Accessia Health
Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.
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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.