Zimmermann–Laband syndrome

Zimmermann–Laband syndrome
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Synonyms	ZLS
Pronounce	N/A
Specialty	N/A
Symptoms	Gingival fibromatosis, hepatosplenomegaly, hypoplasia of the fingernails and toenails, mental retardation
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic treatment
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Zimmermann–Laband syndrome (ZLS) is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. The syndrome is named after the physicians who first described it.

Signs and Symptoms

Individuals with Zimmermann–Laband syndrome typically present with a range of symptoms, which may include:

• Gingival fibromatosis: Overgrowth of the gums, which can lead to dental issues.
• Hepatosplenomegaly: Enlargement of the liver and spleen.
• Hypoplasia of the fingernails and toenails: Underdevelopment or absence of nails.
• Mental retardation: Developmental delays and intellectual disability.
• Facial dysmorphism: Distinctive facial features such as a broad nose, thick lips, and large ears.

Genetics

Zimmermann–Laband syndrome is believed to be caused by mutations in specific genes that are inherited in an autosomal dominant pattern. This means that a single copy of the altered gene in each cell is sufficient to cause the disorder. However, in some cases, the syndrome may occur due to a new mutation in the gene and may not be inherited from a parent.

Diagnosis

The diagnosis of Zimmermann–Laband syndrome is primarily based on the clinical evaluation of the patient. A thorough physical examination and assessment of the characteristic symptoms are essential. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.

Management

There is no cure for Zimmermann–Laband syndrome, and treatment is focused on managing the symptoms. This may include:

• Dental care: Regular dental check-ups and treatment to manage gingival fibromatosis.
• Surgical intervention: In some cases, surgery may be required to correct severe gingival overgrowth.
• Developmental support: Special education and therapies to support developmental delays and intellectual disabilities.

Prognosis

The prognosis for individuals with Zimmermann–Laband syndrome varies depending on the severity of the symptoms. With appropriate management and support, individuals can lead fulfilling lives.

See Also

• Gingival fibromatosis
• Genetic disorders
• Developmental delay

External Links

• [Genetic and Rare Diseases Information Center]
• [National Organization for Rare Disorders]

NIH genetic and rare disease info

• NIH info on Zimmermann–Laband syndrome

Zimmermann–Laband syndrome is a rare disease.