RIN2 syndrome
RIN2 syndrome
Definition
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 macrocephaly-alopecia-cutis laxa-scoliosis syndrome, MACS syndrome, RIN2 deficiency, RIN2 syndrome, tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome — per MONDO