Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Synonyms: Developmental delay-short stature-dysmorphic features-sparse hair syndrome | Loucks-Innes syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape hypertelorism downslanting palpebral fissures epicanthal folds low-set ears depressed nasal bridge micrognathia) short stature ectodermal anomalies (such as sparse eyebrows eyelashes and scalp hair hypolastic toenails) developmental delay and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.
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 2024
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Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability 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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.