Rare Medical 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

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

no.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

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.
orphanet

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.

Clinical description
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.

Etiology
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.

Differential diagnosis
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
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
Intellectual disability
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
Cataract
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 hypotonia
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
Micrognathia
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
Seizure
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
Autosomal dominant inheritance
0000006
Cardiomyopathy
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 more

These 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

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Laband syndrome. Click on the link to view a sample search on this topic.

Rare Medical News