Wolf-Hirschhorn syndrome
(WHS)
Rare Chromosomal Disorder caused by partial deletion of Chromosome 4
About WHS:
The major features of this disorder include a characteristic facial features, delayed growth and development, intellectual disability, hypotonia, and seizures.
Incidence of 1 in 95,896 births
Survival Rate
Statistically significant relationship between deletion size and overall risk of death
35 Years old
Median survival age
Characteristics:
75% of population:
Wide nasal bridge continuing to the forehead, high-arched eyebrows, hypertelorism, epicanthus, high anterior hairline, short philtrum, downturned corner of the mouth, microcephaly, low set ears, postnatal growth deficiency
Lorem
105K
50-75% of population:
Skeletal anomalies, dry skin, craniofacial asymetry, and dental anomalies
25-50% of population:
Heart murmur secondary to congenital heart defect, Ophthalmologic anomalies, Unilateral or bilateral cleft lip/palate, and stemming
Resources
Santina A Zanelli, M. (2024, January 26). Wolf-Hirschhorn syndrome. Practice Essentials, Pathophysiology, Epidemiology. https://emedicine.medscape.com/article/950480-overview?form=f Shannon, N. L. (2001). An epidemiological study of Wolf-Hirschhorn Syndrome: Life expectancy and cause of mortality. Journal of Medical Genetics, 38(10), 674–679. https://doi.org/10.1136/jmg.38.10.674
By Kassidy Coulter
Wolf-Hirschhorn Syndrome
Kassidy
Created on June 6, 2024
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Transcript
Wolf-Hirschhorn syndrome
(WHS)
Rare Chromosomal Disorder caused by partial deletion of Chromosome 4
About WHS:
The major features of this disorder include a characteristic facial features, delayed growth and development, intellectual disability, hypotonia, and seizures.
Incidence of 1 in 95,896 births
Survival Rate
Statistically significant relationship between deletion size and overall risk of death
35 Years old
Median survival age
Characteristics:
75% of population:
Wide nasal bridge continuing to the forehead, high-arched eyebrows, hypertelorism, epicanthus, high anterior hairline, short philtrum, downturned corner of the mouth, microcephaly, low set ears, postnatal growth deficiency
Lorem
105K
50-75% of population:
Skeletal anomalies, dry skin, craniofacial asymetry, and dental anomalies
25-50% of population:
Heart murmur secondary to congenital heart defect, Ophthalmologic anomalies, Unilateral or bilateral cleft lip/palate, and stemming
Resources
Santina A Zanelli, M. (2024, January 26). Wolf-Hirschhorn syndrome. Practice Essentials, Pathophysiology, Epidemiology. https://emedicine.medscape.com/article/950480-overview?form=f Shannon, N. L. (2001). An epidemiological study of Wolf-Hirschhorn Syndrome: Life expectancy and cause of mortality. Journal of Medical Genetics, 38(10), 674–679. https://doi.org/10.1136/jmg.38.10.674
By Kassidy Coulter