Search
Shprintzen syndrome; velocardiofacial syndrome
Pathology:
1) ventricular septal defect
2) tetralogy of Fallot
3) right aortic arch
4) cleft palate
Genetics:
- may be role for LZTR1
- CLTCL1 may play a role in hypotonia
- associated with defects in TBX1
- haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome & velocardiofacial syndrome
- these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life
Clinical manifestations:
1) prominent nose
2) slender hands
3) learning disability
4) feeding problems
5) hypotonia
Differential diagnosis:
- distinguish from DiGeorge syndrome (velocardiofacial syndrome)
Related
DiGeorge syndrome; velocardiofacial syndrome; pharyngeal pouch syndrome
General
developmental disorder
syndrome
Database Correlations
OMIM 192430
References
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1039
- OMIM :accession 192430
- Velocardiofacial Syndrome
http://www.nidcd.nih.gov/health/voice/velocario.asp