4p deletion syndrome, also known as Wolf-Hirschhorn syndrome (WHS), is a congenital disorder associated with various deformities. WHS is caused by deletion of the WHS critical resion (WHSCR) of chromosome 4p16.3. Because WHS is a contiguous gene deletion syndrome, loss of one copy of a single gene or the synergistic effects of loss of two or more genes could give rise to the features of WHS. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Developmental delay and intellectual disability of variable degree is present in all. Seizures occur in 90% to 100% of children. Other findings include skeletal anomalies, congenital heart defects, hearing loss, urinary tract malformations, and structural brain abnormalities. Incidence is estimated to be about 1:50.000 births with a 2:1 female: male ratio.
Category
Chromosomal abnormality
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
LD44 Deletions of the autosomes
H01773 4p deletion syndrome
