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 May 2026
Newly diagnosed with
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
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.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.