Silver-Russell Syndrome

Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.

Also Known As:

Russell Silver Syndrome; Russell-Silver Syndrome; Dwarfism, Silver Russell; Dwarfism, Silver-Russell; Russell-Silver Syndromes; Silver Russell Syndrome; Syndrome, Russell Silver; Syndrome, Russell-Silver; Syndrome, Silver-Russell; Syndromes, Russell-Silver; Silver Russell Dwarfism; Silver-Russell Dwarfism

Musculoskeletal Diseases: 751
- Musculoskeletal Abnormalities: 46
  - Craniofacial Abnormalities: 208
    - Silver-Russell Syndrome: 126
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Silver-Russell Syndrome: 126
  - Chromosome Disorders: 140
    - Silver-Russell Syndrome: 126
- Inborn Genetic Diseases: 12342
  - Dwarfism: 1206
    - Silver-Russell Syndrome: 126
  - Chromosome Disorders: 140
    - Silver-Russell Syndrome: 126
  - Imprinting Disorders: 66
    - Silver-Russell Syndrome: 126

J M Meck Selected Research

J M Meck Research Topics

Disease

Drug/Important Bio-Agent (IBA)