/2q37 microdeletion syndrome

2q37 microdeletion syndrome

Rare Disease

MONDO:0010886

Also Known As

2q37 microdeletion syndrome2q37 monosomyAlbright hereditary osteodystrophy type 3Albright hereditary osteodystrophy-like syndromeBDMRDel(2)(q37)brachydactyly intellectual disability syndromebrachydactyly mental retardation syndromebrachydactyly-intellectual disability syndromedeletion 2q37deletion 2q37-qtermonosomy 2q37-qter2q37 deletion syndromebrachydactyly-mental retardation syndromechromosome 2q37 deletion syndrome

Definition

A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.