Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly failure to thrive and short stature global developmental delay and intellectual disability hypotonia dysmorphic features (short nose depressed nasal bridge low set ears short neck clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead midface retrusion epicanthal folds laterally sparse eyebrows short nose long philtrum widely spaced teeth micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema myopia strabismus hypothyroidism.
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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Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.