Disease - Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type
Definition
An autosomal recessive bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands. Skeletal abnormalities include short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, hypoplastic iliac bones and flat, ovoid vertebral bodies.
Acronym
SEMDBCD
Synonyms
Matrilin-3 related SEMD
SEMD, matrilin-3 type
Spondyloepimetaphyseal dysplasia bowed-legs type
Spondyloepimetaphyseal dysplasia matrilin-3 type
Spondylo-epi-metaphyseal dysplasia matrilin 3 type
Spondylometaepiphyseal dysplasia matrilin-3 type
SEMD, matrilin-3 type
Spondyloepimetaphyseal dysplasia bowed-legs type
Spondyloepimetaphyseal dysplasia matrilin-3 type
Spondylo-epi-metaphyseal dysplasia matrilin 3 type
Spondylometaepiphyseal dysplasia matrilin-3 type
Keywords
› Dwarfism
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
