Spondyloepimetaphyseal Dysplasia, Papss2 Type

Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

Epidemiology

The syndrome has been described a large eight-generation consanguineous Pakistani family.

Clinical description

Radiographic features include delayed epiphyseal ossification at the hips and knees, platyspondyly with irregular end plates and narrowed joint spaces, diffuse early osteoarthritic changes (in the spine and hands), mild brachydactyly, and mild metaphyseal abnormalities (predominantly involving the hips and knees).

Etiology

SEMD, Pakistani type is caused by mutations in the PAPSS2 gene (10q22-q24). Mutations in the same gene have been identified in a 14.5-year-old Turkish girl with premature pubarche, hyperandrogenic anovulation, short stature and skeletal dysplasia.

Genetic counseling

SEMD, Pakistani type is inherited in an autosomal recessive manner.