Published: 2021-03-23

A case report on Wolf-Hirschhorn syndrome

Naveen Kumar, Sapna Berry


Wolf-Hirschhorn syndrome is a genetic condition that affects many systems of the human body. It is caused by a deletion of the band 4p16.3 and this deletion may be sub microscopic. Individuals affected by the syndrome have a special phenotype: wide bridge of the nose, widely spaced eyes, micrognathia, microcephaly, growth retardation, cryptorchidism, heart defects, hearing loss and severe intellectual disability. A familial translocation is seen in 5-13% of the patients. Other patients have de novo deletions, usually on the paternal chromosome 4, or de novo translocations in 1.6%. Prenatal diagnosis is possible. We are hereby reporting a case of 9 months old infant who showed delayed physical and neurocognitive development and a characteristic appearance, which led to the diagnosis of this genetic disease.



Wolf-Hirschhorn syndrome, Microcephaly, Micrognathia

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Engbers H, Van der Smagt JJ, Van‘t Slot R, Vermeesch JR, Hochstenbach R, Poot M. Wolf- Hirschhorn syndrome facial dysmorphic features in a patient with a terminal4p16.3 deletion telomeric to the WHSCR and WHSCR2 region. Eur J Hum Genet. 2009;17:129-32.

Coles K, Mackenzie M, Crolla J, Harvey J, Starr J, Howard F et al. A complex rearrangement associated with sex reversal and the Wolf- Hirschhorn syndrome: A cytogenetic and molecular study. J Med Genet. 1992;29:400-6.

Battaglia A, Filippi T, Carey JC. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet. 2008;148C(4):246-551.

Sukarova-Angelovska E, Kocova M, Sabolich V, Palcevska S, Angelkova N. Phenotypic variations in wolf-Hirschhorn syndrome. Balkan J Med Genet. 2014;17(1):23-30.

Aquino SN, Machado RA, Paranaíba LM, Coletta RD, Aguiar MJ, Fernandes C et al. Uncommon oral cleft in Wolf-Hirschhorn syndrome, Braz Dent J. 2015;26(2):203-6.

Zollino M, Orteschi D, Ruiter M, Pfundt R, Steindl K, Cafiero C et al. Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. Epilepsia. 2014;55(6):849-57.

Rezai S, Wilansky J, Gottimukkala S, Chadee A, Benamanhalli H, et al. Wolf-Hirschhorn Syndrome (WHS), A Case Report and Review of Literature. J Pediatr Neonatal Care. 2016;5(1):00170.

Kamalammal R, Subha L, Rao S. Wolf-Hirschhorn Syndrome with Buphthalmos. World J Med Sci. 2014;11(1):153-4.

Pokale YS, Jadhav AM, Kate U. Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study. Indian J Hum Genet. 2012;18:117-8.