DeSanto-Shinawi syndrome

Term ID

DOID:0081126

Synonyms

• Chromosome 10p12-p11 deletion syndrome
• Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
• Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
• WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

Definition

A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. (3)

References

• OMIM:616708
• ORDO:284169
• ORDO:466943
• ORDO:466950

Ontology

Human Disease   ( DOID:0081126 )