Rare Nephrology News
Disease Profile
Laband syndrome
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Infancy
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Zimmerman Laband syndrome; ZLS; Gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly;
Categories
Congenital and Genetic Diseases; Mouth Diseases; Nervous System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 3473
Definition
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.
Epidemiology
Forty-four patients have been reported to date.
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.
The genetic basis 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.
The differential diagnosis includes other defined syndromes of hirsutism and coarsening of the face. Isolated gingival fibromatosis has been documented as a dominantly transmissible trait .
Management and treatment
Treatment consists of surgical removal of the hyperplasic fibrous tissue and appropriate orthodontic treatment to improve esthetic appearance and eruption of the non-erupted teeth.
Prognosis is dominated by the risk of recurrence, which is high. Physical systemic evaluation is essential. The syndrome is not life-threatening.
Visit the Orphanet disease page for more resources.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 100% of people have these symptoms | ||
| Gingival fibromatosis | 0000169 | |
| 30%-79% of people have these symptoms | ||
| Absent fingernail | 0001817 | |
| Anterior open-bite malocclusion |
Absence of overlap of anterior upper and lower teeth
Gap between upper and lower front teeth when biting
[ more ] |
0009102 |
| Bulbous nose | 0000414 | |
| Generalized hypertrichosis | 0004554 | |
| Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ] |
0001804 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
| Large fleshy ears | 0002265 | |
| Thickened ears | 0009894 | |
| Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ] |
0000445 |
| 5%-29% of people have these symptoms | ||
| Abnormal external genitalia | 0000811 | |
| Abnormality of cardiovascular system morphology | 0030680 | |
| Bifid uvula | 0000193 | |
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Facial hypertrichosis |
Increased facial hair growth
|
0002219 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
| Hallux valgus |
Bunion
|
0001822 |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ] |
0011069 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
| Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 |
| Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Nephrolithiasis |
Kidney stones
|
0000787 |
| Pes cavus |
High-arched foot
|
0001761 |
| Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
| 0001250 | ||
| Short neck |
Decreased length of neck
|
0000470 |
| Soft skin | 0000977 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] |
0000574 |
| 1%-4% of people have these symptoms | ||
| Deep palmar crease |
Deep palm line
|
0006191 |
| Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
| Generalized hyperpigmentation | 0007440 | |
| Overtubulated long bones | 0006391 | |
| Sensorineural hearing impairment | 0000407 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Aortic arch aneurysm | 0005113 | |
| Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
| 0000006 | ||
|
Disease of the heart muscle
|
0001638 | |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| Growth abnormality |
Abnormal growth
Growth issue
[ more ] |
0001507 |
| Hirsutism |
Excessive hairiness
|
0001007 |
Hyperex
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
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