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RIN2 syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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.
Uniprot Description A complex disorder of elastic tissue characterized by sagging skin and occasionally by life-threatening visceral complications.
Mondo Term and Equivalent IDs
MONDO:0013115:  RIN2 syndrome
MESH:C567770: 
Orphanet:217335: 
SCTID:723367005: 
UMLS:C2751321: