Greenberg dysplasia

Term ID

DOID:0111588

Synonyms

• autosomal recessive lethal chondrodystrophy with congenital hydrops
• GRBGD
• Greenberg skeletal dysplasia
• HEM dysplasia
• hydrops, ectopic calcification, moth-eaten skeletal dysplasia
• hydrops-ectopic calcification-motheaten syndrome
• Skeletal dysplasia, Greenberg type

(all 7)

Definition

An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. (2)

References

• GARD:8754
• MESH:C535858
• MIM:215140
• ORDO:1426
• SNOMEDCT_US_2023_03_01:389261002
• UMLS_CUI:C2931048

(all 6)

Ontology

Human Disease   ( DOID:0111588 )