Wolf-Hirschhorn syndrome

Term ID

DOID:0050460

Synonyms

• 4p deletion syndrome
• chromosome 4p16.3 deletion syndrome
• PITT SYNDROME
• Pitt-Rogers-Danks Syndrome

Definition

A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome

References

• GARD:7896
• ICD10CM:Q93.3
• MESH:D054877
• MIM:194190
• NCI:C35528
• ORDO:280
• SNOMEDCT_US_2023_03_01:17122004
• UMLS_CUI:C0796117
• UMLS_CUI:C1956097

Ontology

Human Disease   ( DOID:0050460 )