Malformation syndrome with skin/mucosae involvement Malformation syndrome with connective tissue involvement MACS syndrome Macrocephaly - alopecia - cutis laxa - scoliosis orphanet ICD10:Q82.8 OMIM:613075 RIN2 deficiency 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. RIN2 syndrome Genetic dermis elastic tissue disorder Rare palpebral disease