KEGG   DISEASE: 4p deletion syndrome
Entry
H01773                      Disease                                

Name
4p deletion syndrome;
Wolf-Hirschhorn syndrome
Description
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 [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
Gene
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
Reference
  Authors
Ho KS, South ST, Lortz A, Hensel CH, Sdano MR, Vanzo RJ, Martin MM, Peiffer A, Lambert CG, Calhoun A, Carey JC, Battaglia A
  Title
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
  Journal
J Med Genet 53:256-63 (2016)
DOI:10.1136/jmedgenet-2015-103626
Reference
  Authors
Battaglia A, Carey JC, South ST
  Title
Wolf-Hirschhorn Syndrome
  Journal
GeneReviews (1993)
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