Lenz Majewski hyperostotic dwarfism

Rare Pediatrics News

3223

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Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

Q87.1

Inheritance

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.

X-linked
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)

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

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

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 Pediatrics 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

Rare Pediatrics News

Rare Pediatrics News

Infancy

Q87.1

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.

X-linked
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)

Categories

Summary

Symptoms

Treatment

Management Guidelines

Learn more

In-Depth Information

Rare Pediatrics News

Rare Pediatrics News

Infancy

Q87.1

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.

X-linked 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)

Categories

Summary

Symptoms

Treatment

Management Guidelines

Learn more

In-Depth Information

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.

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