RIN2 syndrome

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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 June 2024

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RIN2 syndrome?

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