geleophysic dysplasia 1

A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2.

Signs and symptoms

• Short stature
• Thin upper lip vermilion
• Short long bone
• Joint stiffness
• Long philtrum
• Round face
• Wide nasal bridge
• Delayed skeletal maturation
• Narrow palpebral fissure
• Irregular capital femoral epiphysis

Also known as: GPHYSD1