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Spondyloepimetaphyseal dysplasia, Shohat type
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
ORPHA:93352Classification level: Disorder
The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy.
The long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay.
Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.