Silverman-Handmaker type dyssegmental dysplasia

An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosom

An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36.

Signs and symptoms

• Pulmonary hypoplasia
• Thoracic hypoplasia
• Disproportionate short-limb short stature
• Anisospondyly
• Short long bone
• Severe short stature
• Micromelia
• Single umbilical artery
• Narrow mouth
• Occipital encephalocele