Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Synonyms: MINDS syndrome | Smith-Kingsmore syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by macrocephaly intellectual disability seizures dysmorphic facial features (including tall forehead downslanting palpebral fissures hypertelorism depressed nasal bridge and macrostomia) megalencephaly and small thorax. Other reported features are umbilical hernia muscular hypotonia global developmental delay autistic behavior and café-au-lait spots among others.
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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Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax 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
Smith-Kingsmore Syndrome Foundation
Funding research to generate precision treatments and ultimately a cure for Smith-Kingsmore Syndrome. SKS is an over-growth condition caused by a mutation of the mTOR gene, resulting in intellectual disability and disordered sleep, with seizures, autism, developmental disorders and hyperphasia also very common.
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.