Rare Pulmonology News

Disease Profile

Lenz Majewski hyperostotic dwarfism

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

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ICD-10

Q87.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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

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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.

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Not applicable

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Other names (AKA)

Lenz-Majewski syndrome; Lenz-Majewski hyperostotic dysplasia; Hyperostotic dwarfism Lenz-Majewski type

Categories

Congenital and Genetic Diseases; Musculoskeletal 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: 2658

Definition
An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

Epidemiology
Nine cases have been reported in the literature.

Clinical description
Marked hypertelorism and broad forehead are noted in all patients as well as large ears. Loose and wrinkled atrophic skin with prominent veins is also apparent, giving the patient a progeroid appearance. Increasing generalized osteosclerosis of tubular bones, vertebrae and cranial bones is a characteristic feature. Cutaneous syndactyly of 2nd to 5th fingers was observed in all patients, as well as brachydactyly (see this term) and proximal symphalangism (see this term). All patients have moderate to severe intellectual deficit.

Genetic counseling
The elevated age of some patient's fathers of the reported families is suggestive of an autosomal dominant de novo mutation.

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.

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

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.

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 Lenz Majewski hyperostotic dwarfism. Click on the link to view a sample search on this topic.

Rare Pulmonology News

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal cortical bone morphology
0003103
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin

[ more ]

0008065
Aplastic clavicle
Absent collarbone
0006660
Brachydactyly
Short fingers or toes
0001156
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity

[ more ]

0000453
Delayed cranial suture closure
0000270
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Facial hyperostosis
Enlargment of the facial bones
Excessive growth of facial bones
Excessive growth of facial skeleton
Increase in size of the facial bones
Overgrowth of facial bones
Overgrowth of facial skeleton
Overgrowth of the facial bones

[ more ]

0005465
Finger syndactyly
0006101
Global developmental delay
0001263
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Large fontanelles
Wide fontanelles
0000239
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Macrotia
Large ears
0000400
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Osteopetrosis
Harder, denser, fracture-prone bones
0011002
Prematurely aged appearance
Precociously senile appearance
0007495
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin

[ more ]

0001582
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Short palm
0004279
Specific learning disability
0001328
Symphalangism affecting the phalanges of the hand
Fused finger bones of the hand
0009773
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap

[ more ]

0002684
30%-79% of people have these symptoms
Abnormal nasolacrimal system morphology
0000614
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Elbow ankylosis
0003070
Epispadias
0000039
Facial palsy
Bell's palsy
0010628
Femoral hernia
0100541
Hypospadias
0000047
Inguinal hernia
0000023
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips

[ more ]

0012471
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
5%-29% of people have these symptoms
Absent septum pellucidum
0001331
Agenesis of corpus callosum
0001274
Bifid uvula
0000193
External genital hypoplasia
Underdevelopment of external reproductive organs
0003241
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hyperconvex fingernails
0001812
Hypogonadism
Decreased activity of gonads
0000135
Hypoplastic fingernail
Small fingernail
Underdeveloped fingernail

[ more ]

0001804
Kyphosis
Hunched back
Round back

[ more ]

0002808
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Scoliosis
0002650
Submucous cleft hard palate
0000176
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Anteriorly placed anus
0001545