RIN2 syndrome
Synonyms: MACS syndrome | Macrocephaly-alopecia-cutis laxa-scoliosis syndrome | RIN2 deficiency | Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
RIN2 syndrome formerly known as macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome is a very rare inherited connective tissue disorder characterized by macrocephaly sparse scalp hair soft-redundant and hyperextensible skin joint hypermobility and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures upper eyelid fullness/infraorbital folds thick/everted vermillion gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice bronchiectasis hypergonadotropic hypergonadism and brachydactyly (see this term) have also been 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 April 2024
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RIN2 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
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
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.