craniotubular dysplasia Ikegawa type

info · Genetic

A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1.

Signs and symptoms

Broad femoral neck
Short stature
Thickened calvaria
Broad ischia
Prominent forehead
Platyspondyly
Visual impairment
Broad ribs
Metaphyseal dysplasia
Hypertelorism

Also known as: CTDI