Shprintzen syndrome; velocardiofacial syndrome

Pathology

• ventricular septal defect
• tetralogy of Fallot
• right aortic arch
• 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

• prominent nose
• slender hands
• learning disability
• feeding problems
• hypotonia

Differential diagnosis

• distinguish from DiGeorge syndrome (velocardiofacial syndrome)

More general terms

• developmental disorder
• syndrome

Additional terms

• DiGeorge syndrome; velocardiofacial syndrome; pharyngeal pouch syndrome

Database

• OMIM: https://mirror.omim.org/entry/192430