Wolf-Hirschhorn syndrome

Last revised by Jeremy Jones ◉ on 21 Feb 2022

Citation, DOI, disclosures and article data

Citation:

Radswiki T, Jones J, Yadegarfar M, et al. Wolf-Hirschhorn syndrome. Reference article, Radiopaedia.org (Accessed on 29 Mar 2023) https://doi.org/10.53347/rID-14697

DOI:

https://doi.org/10.53347/rID-14697

Permalink:

https://radiopaedia.org/articles/14697

rID:

14697

Article created:

22 Aug 2011, The Radswiki ◉

Disclosures:

At the time the article was created The Radswiki had no recorded disclosures.

View The Radswiki's current disclosures

Last revised:

21 Feb 2022, Jeremy Jones ◉

Disclosures:

At the time the article was last revised Jeremy Jones had no recorded disclosures.

View Jeremy Jones's current disclosures

Revisions:

16 times, by 11 contributors - see full revision history and disclosures

Systems:

Obstetrics, Paediatrics

Sections:

Syndromes

Tags:

cases, syndrome

Synonyms:

Wolf Hirschhorn syndrome
Chromosome 4p deletion syndrome
Chromosome 4p deletion
Wolf-Hirschhorn syndrome (WHS)
Pitt-Rogers-Danks syndrome (PRDS)
Pitt syndrome
Wolf-Hirschhorn Chromosome Region (WHCR)
Wittwer syndrome

Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 (4p16.3).

Clinical presentation

There is a large clinical spectrum:

CNS
- agenesis of the corpus callosum
- hypertelorism
- coloboma
- seizures ⁴
craniofacial
- calvarial asymmetry
- cleft lip + / - palate
- abnormally sloped forehead resulting in a "Greek warrior helmet" facies ⁵
conductive hearing loss
hepatic neoplasms
hematopoietic dysfunction⁶
growth
- intra-uterine growth restriction (IUGR): can be severe
cardiac anomalies⁷:
- valvular diseases, e.g. pulmonary stenosis and aortic insufficiency
- VSD
urogenital anomalies
- hypospadias
- cryptorchidism
skeletal/limb anomalies
- club foot