joint laxity, short stature, and myopia

info · Syndrome · ICD-10: Q87.5

A syndrome characterized by joint laxity, short stature, and severe myopia with prominent eyes that has_material_basis_in homozygous mutation in the GZF1 gene on chromosome 20p11.

Signs and symptoms

Short stature
Joint hypermobility
High myopia
Talipes equinovarus
Hearing impairment
Retinal detachment
Multiple joint dislocation
Iris coloboma
Pectus carinatum
Chorioretinal coloboma

Also known as: JLSM