What are the other Names for this Condition? (Also known as/Synonyms)

• Gingival Fibromatosis, Abnormal Fingers, Fingernails, Nose and Ears, and Splenomegaly
• Laband Syndrome
• ZLS (Zimmerman-Laband Syndrome)

What is Zimmerman-Laband Syndrome? (Definition/Background Information)

• Zimmermann-Laband Syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet
• Coarse facial appearance includes bulbous soft nose, thickened lips, thick and floppy ears and gingival hypertrophy or fibromatosis
• The syndrome has a highly variable clinical expression, and other possible features include hyperextensibility of joints, hepatosplenomegaly, hypertrichosis and hearing loss
• Intellectual deficit is occasional and usually mild to moderate. The overgrown gingival tissues can affect the ability to speak

(Source: Zimmermann-Laband Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Zimmerman-Laband Syndrome? (Age and Sex Distribution)

• Zimmermann-Laband Syndrome is a rare congenital disorder that has been so far described in about 45 patients
• The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Zimmerman-Laband Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Zimmermann-Laband Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for this syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Zimmerman-Laband Syndrome? (Etiology)

The genetic basis of Zimmermann-Laband Syndrome is unknown.

• Mapping of breakpoints of two translocations t(3;8) and t(3;17) found in two patients with the typical clinical features of Zimmermann-Laband Syndrome defined a common breakpoint region located in 3p14.3,
• But, the lack of a specific coding-sequence lesion in the common region suggests that either some other type of genetic defect in this vicinity, or an alteration elsewhere in the genome, could be responsible for ZLS
• Autosomal dominant inheritance has been suggested
• Isolated gingival fibromatosis has been documented as a dominantly transmissible trait

(Source: Zimmermann-Laband Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Zimmerman-Laband Syndrome?

The signs and symptoms of Zimmermann-Laband Syndrome may include:

• Aortic root dilatation
• Cardiomyopathy
• Cataract
• Coarse facial features
• Delayed eruption of teeth
• Dilatation of the aortic arch
• Generalized hypotonia
• Gingival fibromatosis
• Growth abnormality
• Hepatomegaly
• High palate
• Hirsutism
• Hyperextensibility of the finger joints
• Long penis
• Myopia
• Patent ductus arteriosus
• Posteriorly rotated ears
• Scoliosis
• Seizures
• Short distal phalanx of finger
• Short distal phalanx of toe
• Small nail
• Spina bifida occulta
• Splenomegaly
• Synophrys
• Thick eyebrow
• Thick lower lip vermilion
• Umbilical hernia
• Wide nasal bridge

Occasionally present symptoms in 5-29% of the cases:

• Hearing impairment
• Intellectual disability, progressive
• Intellectual disability, severe
• Nephrolithiasis

(Source: Zimmermann-Laband Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Zimmerman-Laband Syndrome Diagnosed?

Zimmermann-Laband Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• A differential diagnosis may be necessary to eliminate conditions with similar symptoms (such as hirsutism and coarse face)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

(Source: Zimmermann-Laband Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

What are the possible Complications of Zimmerman-Laband Syndrome?

The complications of Zimmermann-Laband Syndrome may include:

• Severe intellectual impairment
• Speech and hearing impairment

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Zimmerman-Laband Syndrome Treated?

• Treatment of Zimmermann-Laband Syndrome consists of surgical removal of the hyperplasic fibrous tissue and appropriate orthodontic treatment to improve aesthetic appearance and eruption of the non-erupted teeth

(Source: Zimmermann-Laband Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How can Zimmerman-Laband Syndrome be Prevented?

Currently, Laband Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Zimmerman-Laband Syndrome? (Outcomes/Resolutions)

• The prognosis of Zimmermann-Laband Syndrome is dominated by the risk of recurrence, which is high
• Physical systemic evaluation is essential
• The syndrome is not life-threatening

(Source: Zimmermann-Laband Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Additional and Relevant Useful Information for Zimmerman-Laband Syndrome:

• Zimmermann-Laband Syndrome is also known by the following names: Gingival Fibromatosis, Hepatosplenomegaly other Anomalies

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/