spondylometaphyseal dysplasia with corneal dystrophy

info · Genetic

A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.

Signs and symptoms

Short long bone
Limb undergrowth
Corneal opacity
Metaphyseal widening
Lumbar platyspondyly
Brachydactyly
Anteverted nares
Squared iliac bones
Short nose
Increased intervertebral space

Also known as: SMDCD