Wolf-Hirschhorn Syndrome (WHS)

Faviola Bedoy, SPTA

Rebecca Espinoza, SPTA
Hector Gutierrez, SPTA
What is Wolf-Hirschhorn Syndrome?
Wolf-Hirschhorn is a rare genetic
disorder that your baby can get
when part of chromosome 4 is
deleted. This occurs when cells
divide abnormally during
reproduction
How is Wolf-Hirschhorn Syndrome
diagnosed??
A Chromosomal microarray is the recommended
first line genetic test for developmental delay (DD),
intellectual disability (ID) and autism spectrum
disorders (ASD)*. CMA however, does not identify
fragile X syndrome (FXS), a common cause of
intellectual disability. Therefore, a DNA test for FXS
must be ordered alongside a CMA.
The diagnosis is confirmed by detection of a deletion
of the WHS critical region by Cytogenetic
(chromosome) Analysis
How common is it?
❏ The frequency of Wolf-Hirschhorn syndrome is thought to be 1 in 50,000
births
❏ Undiagnosed cases
❏ More common in females
Related Disorders:
● Trisomy 13 and Trisomy 18
● Cri du chat Syndrome
● Down Syndrome
● Angelman Syndrome
● Williams Syndrome
● Smith-Lemli- opitz Syndrome
Impairments of body function &
structures of WHS:

❖ Musculoskeletal
❖ Neurological
❖ Gastrointestinal
❖ Cardiac
Common Medical Concerns: Behavior and developmental concerns:

● Seizures
● Heart defects ● Delayed weak motor skills
● Feeding difficulties ● Developmental delay
● Hearing, vision impairments ● Mental retardation
● Dental problems ● Rocking, hand shaking
● Renal issues ● Hand flapping
● Speech impairment
Physical Characteristics:
● Broad beaked nose
● Eyes wide spaced
● Small chin
● Small head (microcephaly)
● Cleft/Palate lip
● Droopy eyelids
● Hypotonic
● Abnormal spinal curvature
(scoliosis)
Features of WHS
Treatment and Interventions:
Individuals with WHS will benefit from:

❏ Supportive care
❏ Feeding therapy
❏ Assistive communication
❏ Speech
❏ Physical Therapy
❏ Occupational Therapy
Physical therapy interventions
Strength training

Manual therapy

Skeletal abnormalities
Story of Giovanni who was born with WHS
https://youtu.be/chyBkzfwLGw
Medical interventions
❏ Cardiac medication
❏ Antibiotics
❏ Seizure prophylaxis
❏ Study on the use of sodium bromide
❏ Surgical interventions
❏ Adaptive equipment
❏ Orthopedic
Prognosis
● Difficult to say (how much they are affected depends on how severe the
symptoms are)
● 35% of individuals with WHS die within the first year of life
● A patient with mild symptoms may live well into their adulthood
● Someone with seizures or infections may not have a long life
● Life expectancy is unknown
● Psychosocial
● Autonomy
● Epidemiological study on life expectancy of WHS
 References
Shannon, N., Maltby, E., Rigby, A., & Quarrell, O. (2001, October). An epidemiological study of Wolf-Hirschhorn syndrome: Life
expectancy and cause of mortality. Retrieved December 03, 2020, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734744/

Kagitani-Shimono K;Imai K;Otani K;Kamio N;Okinaga T;Toribe Y;Suzuki Y;Ozono K;. (n.d.). Epilepsy in Wolf-Hirschhorn syndrome
(4p-). Retrieved December 03, 2020, from https://pubmed.ncbi.nlm.nih.gov/15660782/

Wolf-Hirschhorn syndrome. (n.d.). Retrieved December 03, 2020, from

https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome

Wolf-Hirschhorn syndrome: MedlinePlus Genetics. (2020, September 08). Retrieved December 03, 2020, from
https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/

Santina A Zanelli, M. (2019, November 10). Wolf-Hirschhorn Syndrome Treatment & Management: Medical Care, Surgical Care,
Consultations. Retrieved December 03, 2020, from https://emedicine.medscape.com/article/950480-treatment

Wolfhirschhorn.org. (n.d.). Retrieved December 03, 2020, from http://wolfhirschhorn.org/