microcephalic osteodysplastic primordial dwarfism type I

An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygo

An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.

Signs and symptoms

• Microcephaly
• Agenesis of corpus callosum
• Intrauterine growth retardation
• Cryptorchidism
• Large hands
• Renal hypoplasia
• Short metacarpal
• 11 pairs of ribs
• Bowed humerus
• Long clavicle

Also known as: Taybi-Linder syndrome; brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; osteodysplastic primordial dwarfism type I