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RIN2 syndrome

Synonyms
MACS SYNDROME; Macrocephaly, alopecia, cutis laxa, and scoliosis; TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A very rare inherited connective tissue disorder with characteristics of 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. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11. [from SNOMEDCT_US]

Available tests

28 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MACS, RASSF4, RIN2
    Summary: Ras and Rab interactor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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