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Zimmermann - Laband Syndrome: of The Population Is Generally Affected)

Zimmerman-Laband syndrome is a rare genetic disorder characterized by abnormalities of the head, face, hands and feet. It is caused by mutations in the KCNH1 potassium channel gene. It is inherited in an autosomal dominant pattern, meaning only one copy of the abnormal gene is necessary to cause the disorder. Affected individuals may experience overgrown gums, long thin fingers and toes, and mental retardation. Treatment focuses on managing specific symptoms through a team of specialists.

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57 views3 pages

Zimmermann - Laband Syndrome: of The Population Is Generally Affected)

Zimmerman-Laband syndrome is a rare genetic disorder characterized by abnormalities of the head, face, hands and feet. It is caused by mutations in the KCNH1 potassium channel gene. It is inherited in an autosomal dominant pattern, meaning only one copy of the abnormal gene is necessary to cause the disorder. Affected individuals may experience overgrown gums, long thin fingers and toes, and mental retardation. Treatment focuses on managing specific symptoms through a team of specialists.

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gclefkaren
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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ZIMMERMANN – LABAND

SYNDROME
GENERAL BACKGROUND (definition, description, who discovered it (if any) and how many
of the population is generally affected)

Zimmerman-Laband syndrome is an extremely rare genetic disorder characterized by


abnormalities of the head and facial (craniofacial) area and the hands and feet. Most children
with this disorder have abnormally large gums (gingival fibromatosis). Overgrown gums may
affect the ability to chew, swallow, and/or speak. In addition, affected infants may exhibit
abnormally long, thin fingers and toes and/or deformed (dysplastic) or absent nails at birth. In
some cases, mental retardation may also be present. Laband syndrome is an extremely rare
genetic disorder that affects males and females in equal numbers. It appears that the disease
most frequently affects individuals who are of Eastern Indian ancestry from India and the West
Indies. However, the disorder has also been reported in individuals of European descent. More
than 30 cases have been reported in the medical literature since the disorder’s original
description in 1928.

TYPE OF GENETIC DISEASE (sex-linked; autosomal dominant; autosomal recessive;


aneuploidy due to mutation etc.) Discuss in what way it is transferred to the next generation

Autosomal dominant genetic disorders occur when only a single copy of an abnormal
gene is necessary for the appearance of the disease. The abnormal gene can be inherited from
either parent, or can be the result of a new mutation (gene change) in the affected individual.
The risk of passing the abnormal gene from affected parent to offspring is 50% for each
pregnancy regardless of the sex of the resulting child.

PHOTOS/ILLUSTRATIONS of the chromosome affected

The condition is caused by mutations in a potassium channel gene – KCNH1.


Clinical features of four patients with a KCNH1 mutation.

SYMPTOMS

Symptoms may include (in order of frequency):

 Cognitive Impairment  Frontal bossing

 Short stature  Hypoplasia of the zygomatic bone

 Broad forehead  Hypoplastic toenails

 Macrocephaly  Muscular hypotonia

 Depressed nasal bridge  Pectus excavatum


TREATMENT PREVENTION/CONTROL MEASURES

The treatment of Laband syndrome is directed toward the specific symptoms that are
apparent in each affected individual. Pediatricians; specialists who assess and correct
irregularities of the teeth (dentists and orthodontists); specialists who diagnose and treat
skeletal abnormalities (orthopedists); orthopedic and dental surgeons; specialists who treat
disorders affecting the tissues supporting and surrounding the teeth (periodontists); and/or other
health care professionals may need to work together to ensure a comprehensive, systematic
approach to treatment.

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