Conditions / Syndrome
Laron syndrome
info · Syndrome · ICD-10: E34.321
A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.
Signs and symptoms
- Delayed skeletal maturation
- Decreased circulating insulin-like growth factor 1 concentration
- Severe short stature
- Short long bone
- Small face
- Limb undergrowth
- Delayed menarche
- Abnormal joint morphology
- Abnormally high-pitched voice
- Blue sclerae
Also known as: Laron-type isolated somatotropin defect