Conditions / Genetic

sclerosteosis 2

info · Genetic · ICD-10: M85.2

A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11.

Signs and symptoms

Facial palsy
Thickened calvaria
Cutaneous finger syndactyly
Hearing impairment
Vertigo
Spastic ataxia
Gait disturbance
Nail dysplasia
Cranial nerve compression
Tetraparesis

Also known as: SOST2