RIN2 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 have also been reported.

Also known as: MACS syndrome, RIN2 deficiency, RIN2 syndrome, macrocephaly-alopecia-cutis laxa-scoliosis syndrome, tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome, macrocephaly, alopecia, cutis laxa, and scoliosis, tall forehead, sparse hair, skin hyperextensibility, and scoliosis

0 clinical trials for this condition and its sub-types, 0 tagged with RIN2 syndrome itself.