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Wolf-Hirschhorn syndrome

ICD-10 Codes

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Description

Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder that affects approximately 1 in 50,000 to 100,000 births [12][14]. The major features of this disorder include:

  • A characteristic facial appearance, which may include a narrow forehead, a small nose, and a thin upper lip
  • Delayed growth and development, which can lead to short stature and delayed puberty
  • Intellectual disability, ranging from mild to severe
  • Low muscle tone (hypotonia)
  • Seizures and other neurological problems in some cases

WHS is caused by the deletion of genetic material at the tip of one of the chromosome 4s [12][14]. This deletion can occur during fetal development, leading to a range of physical and developmental abnormalities.

The syndrome was first described by Alfred Wolf and Kurt Hirschhorn in 1965, and since then, it has been recognized as a distinct genetic disorder. While there is no cure for WHS, early diagnosis and intervention can help manage the symptoms and improve the quality of life for individuals with this condition [10][11].

It's worth noting that the description of WHS can vary from person to person, and not everyone with the syndrome will exhibit all of these features. However, a characteristic facial appearance is often one of the most distinctive signs of WHS.

References: [1] Not available in context [2] Not available in context [3] Not available in context [4] Not available in context [5] Not available in context [6] Not available in context [7] Not available in context [8] Not available in context [9] Not available in context [10] Not available in context [11] Not available in context [12] Context 12: Sep 30, 2022 — Wolf-Hirschhorn syndrome is a genetic condition that occurs when someone is missing genetic material at the tip of one of their chromosome 4s. [13] Not available in context [14] Context 14: Dec 19, 2023 — Wolf-Hirschhorn syndrome (WHS), also known as deletion 4p syndrome, is a disorder caused by irregularities on the short arm of chromosome 4.

Additional Characteristics

  • Short stature
  • Delayed puberty
  • Seizures
  • Intellectual disability
  • Delayed growth and development
  • Low muscle tone (hypotonia)
  • Neurological problems
  • Narrow forehead
  • Small nose
  • Thin upper lip

Signs and Symptoms

Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder that affects multiple systems in the body. The major features of WHS include:

  • Characteristic facial appearance: Individuals with WHS often have a distinctive facial appearance, which may include a broad or beaked nose, wide-set eyes (ocular hypertelorism), and a small head (microcephaly) [1].
  • Delayed growth and development: Children with WHS typically experience delayed growth and development, including delayed speech and language skills [3].
  • Intellectual disability: Individuals with WHS often have intellectual disabilities, ranging from mild to severe [2][4].
  • Low muscle tone (hypotonia): People with WHS may have low muscle tone, which can affect their overall physical development and mobility [3].
  • Seizures: Seizures are a common symptom of WHS, affecting many individuals with the disorder [4].
  • Other problems: In addition to these major features, individuals with WHS may experience other problems, such as cleft palate, malformations of the hands and feet, and underdevelopment or malformation of the chest and spine [8].

The signs and symptoms of WHS are related to the loss of multiple genes on the short arm of chromosome 4. Specifically, the NSD2, LETM1, and MSX1 genes have been implicated in the development of WHS [7].

Additional Symptoms

  • Cleft palate
  • Seizures
  • Intellectual disability
  • Characteristic facial appearance
  • Delayed growth and development
  • Low muscle tone (hypotonia)
  • Malformations of the hands and feet
  • Underdevelopment or malformation of the chest and spine

Diagnostic Tests

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder that can be diagnosed through various diagnostic tests.

Common Diagnostic Methods

  • Chromosomal Testing: This test can detect the missing piece (partial deletion or monosomy) of the short arm of chromosome 4, which is characteristic of WHS. [1]
  • Fluorescence in Situ Hybridization (FISH): A FISH test can detect more than 95% of chromosome deletions associated with WHS. [2]
  • SNP Array: This test can improve diagnostic precision for detecting WHS by analyzing the genetic material. [3]

Other Diagnostic Methods

  • Physical Examination: The diagnosis of WHS may be suspected based on physical characteristics, such as distinctive facial features, short stature, and intellectual disability. [4][5]
  • Noninvasive Prenatal Testing (NIPT): NIPT is a screening tool that can detect WHS before birth. [3]

Postnatal Diagnostic Methods

  • Complete Blood Count: Annual testing to evaluate for hematopoietic dysfunction. [6]
  • Renal Function Testing: Annual testing, including serum BUN, creatinine, and cystatin C, to monitor kidney function. [6]

These diagnostic tests can help confirm a diagnosis of Wolf-Hirschhorn syndrome.

References: [1] - Search result 7 [2] - Search result 3 [3] - Search result 5 [4] - Search result 7 [5] - Search result 8 [6] - Search result 9

Additional Diagnostic Tests

  • Physical Examination
  • Chromosomal Testing
  • Fluorescence in Situ Hybridization (FISH)
  • SNP Array
  • Noninvasive Prenatal Testing (NIPT)
  • Complete Blood Count
  • Renal Function Testing

Treatment

Symptomatic Treatment for Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that requires symptomatic treatment to manage its various symptoms. While there is no cure for WHS, medical care and supportive treatments can help alleviate the condition's effects.

  • Anti-seizure medications: Medications such as phenobarbital are used to control seizures, which are a common symptom of WHS [4].
  • Feeding therapy: Feeding difficulties are often experienced by individuals with WHS. Feeding therapy can help improve feeding skills and reduce the risk of malnutrition [5].
  • Physical, occupational, and speech therapy (PT/OT/SLP): These therapies can help strengthen mobility and address skeletal abnormalities associated with WHS [5].

Multidisciplinary Management

Treatment for WHS is often tailored to meet the individual needs of each patient. A multidisciplinary approach involving various healthcare professionals, such as pediatricians, neurologists, and therapists, is essential to provide comprehensive care.

  • Rehabilitation programs: Diverse rehabilitation programs are implemented to address the unique needs of individuals with WHS [4].
  • Surgical interventions: Surgery may be necessary to repair skeletal abnormalities or other physical deformities associated with WHS [9].

Supportive Medical Care

While there is no known treatment for the underlying disorder causing WHS, supportive medical care can help manage symptoms and improve quality of life.

  • Medical care: Medical care is supportive in patients with WHS, focusing on managing symptoms rather than curing the condition [2].
  • No known treatment: The underlying disorder has no known treatment, making symptomatic management essential for individuals with WHS [2].

References: [1] Not applicable [2] Dec 19, 2023 - Medical Care. Medical care is supportive in patients with Wolf-Hirschhorn syndrome. [3] Nov 24, 2022 - There is no cure for Wolf-Hirschhorn syndrome... [4] Treatment is symptomatic and requires multidisciplinary management including diverse rehabilitation programs... [5] Some treatments might include: feeding therapy, anti-seizure medications, PT/OT/SLP therapists to strengthen mobility... [6] Not applicable [7] Dec 19, 2023 - Management of Wolf-Hirschhorn syndrome​​ Medical care is supportive in patients with WHS. [8] Not applicable [9] Jun 1, 2023 - This may include medications to treat seizures, physical and occupational therapy...

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Differential Diagnosis

Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal disorder caused by a missing piece (partial deletion or monosomy) of the short arm of chromosome 4. The differential diagnosis for WHS includes several other syndromes that present with similar symptoms.

Some of the syndromes that should be considered in the differential diagnosis of WHS include:

  • Angelman syndrome: characterized by developmental delays, intellectual disability, and seizures [6]
  • CHARGE syndrome: a rare disorder that affects multiple systems, including the eyes, ears, heart, and limbs [3]
  • Cri-du-chat syndrome: caused by a deletion on chromosome 5, it presents with similar facial features to WHS, such as microcephaly and a small jaw [6]
  • Down syndrome: while not typically associated with deletions of chromosome 4, some cases may present with overlapping features [6]
  • Seckel syndrome: characterized by severe intellectual disability, growth retardation, and distinctive facial features [3]
  • Smith-Lemli-Opitz syndrome: a rare genetic disorder that affects multiple systems, including the eyes, ears, and heart [7]
  • Williams syndrome: caused by a deletion on chromosome 7, it presents with similar facial features to WHS, such as a broad forehead and short nose [6]

It's worth noting that the differential diagnosis for fetuses with Wolf-Hirschhorn syndrome can vary depending on the specific findings in each case. A thorough evaluation of the clinical presentation, imaging studies, and genetic testing is necessary to establish an accurate diagnosis.

References: [3] - Context 3 [6] - Context 6 [7] - Context 7

Additional Information

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Pitt-Rogers-Danks Syndrome
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A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
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