Craniotubular dysplasia, Ikegawa type (CTDI)

Alternative name(s) :

Gene_locus : human-TMEM53

Mutation : 2 mutations V75HfsX26_human-TMEM53 N22AfsX7_human-TMEM53

OMIM : 619727 , 619722

Comment
Craniotubular dysplasia, Ikegawa type (CTDI) is characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life. In 4 Indian families with craniotubular dysplasia, Guo et al. 2021<\/A> identified homozygous mutations in the TMEM53 gene: a 4-bp insertion in an affected brother and sister in family A, and a 3-bp deletion in 4 affected individuals from families B, C, and D.