spondylometaphyseal dysplasia Sedaghatian type

A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespira

A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3.

Signs and symptoms

• Delayed epiphyseal ossification
• Irregular tarsal bones
• Rhizomelia
• Disproportionate short stature
• Brachydactyly
• Narrow greater sciatic notch
• Hypotonia
• Turricephaly
• Short metacarpal
• Generalized hypotonia

Also known as: SMDS; Sedaghatian chondrodysplasia; congenital lethal metaphyseal chondrodysplasia