Macrocephaly, alopecia, cutis laxa, and scoliosis

Definition:

Macrocephaly, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity of joints, gingival hypertrophy, retrognathia with abnormal skull morphology, and severe scoliosis. Homozygous mutations in RIN2, a protein that is involved in the regulation of endocytosis, have been reported.

References:

[1]. Delfien Syx, et al. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Hum Genet. 2010 Jul;128(1):79-88. [Content Brief]

[2]. Lina Basel-Vanagaite, et al. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet. 2009 Aug;85(2):254-63. [Content Brief]

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