KEGG   DISEASE: 4p deletion syndrome
H01773                      Disease                                

4p deletion syndrome;
Wolf-Hirschhorn syndrome
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.
Chromosomal abnormality
Human diseases [BR:br08402]
 Other congenital disorders
  Chromosomal abnormalities
   H01773  4p deletion syndrome
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
CPLX1 [HSA:10815] [KO:K15294]
CTBP1 [HSA:1487] [KO:K04496]
FGFRL1 [HSA:53834]
LETM1 [HSA:3954] [KO:K17800]
NSD2 [HSA:7468] [KO:K11424]
Other DBs
ICD-11: LD44.41
ICD-10: Q93.3
MeSH: D054877
OMIM: 194190
Ho KS, South ST, Lortz A, Hensel CH, Sdano MR, Vanzo RJ, Martin MM, Peiffer A, Lambert CG, Calhoun A, Carey JC, Battaglia A
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
J Med Genet 53:256-63 (2016)
Battaglia A, Carey JC, South ST
Wolf-Hirschhorn Syndrome
GeneReviews (1993)

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