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Gene: CHST3

Green List (high evidence)

Features include dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. Short stature and multiple joint dislocations or subluxations dominate the neonatal clinical and radiographic picture. During childhood, the dislocations improve, both spontaneously and with surgical treatment, and features of spondyloepiphyseal dysplasia become apparent, leading to arthritis of the hips and spine with intervertebral disc degeneration, rigid kyphoscoliosis, and trunk shortening by late childhood. Minor heart defects have been reported in a few affected individuals.
Sometimes called autosomal recessive Larsen syndrome.

Created: 6 Aug 2024, 7:08 a.m. | Last Modified: 6 Aug 2024, 7:08 a.m.

Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM # 143095

Publications

• PMID: 18513679