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Disease Profile

Lenz microphthalmia 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.

Unknown

Age of onset

Neonatal

ICD-10

Q11.2

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.

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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)

Microphthalmia syndromic 1; MCOPS1; Lenz dysplasia;

Categories

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

Summary

Lenz microphthalmia syndrome is one of a group of genetic disorders known as syndromic microphthalmia. These conditions involve abnormal development of the eyes and several other parts of the body. Eye symptoms may include underdeveloped (small)or absent eyes, clouding of the lens (cataracts), uncontrolled eye movements (nystagmus),a gap or split in structures that make up the eye (coloboma) and glaucoma.[1] These symptoms may affect one or both eyes and may cause vision loss or blindness. Other signs and symptoms may include abnormalities of the ears, teeth, hands, skeleton, urinary system, brain and heart.[1][2] Around 60% of people with this condition have delayed development or intellectual disability ranging from mild to severe.[2] There are at least 10 different types of syndromic microphthalmia that are caused by mutations in different genes. Most cases of Lenz microphthalmia are caised by mutations of the BCOR gene and are inherited in an X-linked recessive pattern.[3] Other forms of syndromic microphthalmia are inherited in different patterns depending on the gene involved. There is no specific treatment for Lenz microphthalmia, and the long term outlook is based on the symptoms.[1]

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
80%-99% of people have these symptoms
Microphthalmia
Abnormally small eyeball
0000568
30%-79% of people have these symptoms
Abnormality of dental morphology
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth

[ more ]

0006482
Camptodactyly of finger
Permanent flexion of the finger
0100490
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Complete duplication of thumb phalanx
Complete duplication of thumb bones
0009943
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
External ear malformation
0008572
Finger syndactyly
0006101
Glaucoma
0000501
Hydronephrosis
0000126
Hydroureter
0000072
Hypospadias
0000047
Intellectual disability
Mental deficiency
Mental retardation
Mental-retardation
Mental retardation, nonspecific

[ more ]

0001249
Iris coloboma
Cat eye
0000612
Low-set, posteriorly rotated ears
0000368
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Optic nerve coloboma
0000588
Oral cleft
Cleft of the mouth
0000202
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney

[ more ]

0008678
Short stature
Decreased body height
Small stature

[ more ]

0004322
5%-29% of people have these symptoms
Abnormal clavicle morphology
Abnormal collarbone
0000889
Abnormal shoulder morphology
Abnormality of the shoulder
0003043
Abnormality of cardiovascular system morphology
0030680
Ankyloblepharon
Adhesion of eyelids
Eyelids stuck together

[ more ]

0009755
Aplasia/Hypoplasia of the corpus callosum
0007370
Autistic behavior
0000729
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hyperlordosis
Prominent swayback
0003307
Kyphosis
Hunched back
Round back

[ more ]

0002808
Long thorax
Long rib cage
0100818
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Preauricular skin tag
0000384
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Scoliosis
0002650
Seizure
0001250
Self-injurious behavior
Self-injurious behaviour
0100716
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
Webbed neck
Neck webbing
0000465
1%-4% of people have these symptoms
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball

[ more ]

0000528
Clinodactyly
Permanent curving of the finger
0030084
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Motor delay
0001270
Pectus excavatum
Funnel chest
0000767
Prominent fingertip pads
Prominent finger pads
0001212
Syndactyly
Webbed fingers or toes
0001159
Percent of people who have these symptoms is not available through HPO
Abnormal palmar dermatoglyphics
0001018
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Agenesis of maxillary lateral incisor
0000690
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Anal atresia
Absent anus
0002023
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647

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

  • Genetics Home Reference (GHR) contains information on Lenz microphthalmia syndrome. This website is maintained by the National Library of Medicine.
  • 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

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
    • 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 microphthalmia syndrome. Click on the link to view a sample search on this topic.

      References

      1. Ng D. Lenz microphthalmia syndrome. GeneReviews. Updated 2014; https://www.ncbi.nlm.nih.gov/books/NBK1521.
      2. Opitz J. Lenz microphthalmia syndrome. National Organization of Rare Disorders (NORD). 2012; https://rarediseases.org/rare-diseases/lenz-microphthalmia-syndrome/.
      3. Microphthalmia, syndromic 2; MCOPS2. On-line Mendelian Inheritance in Man. Updated 6/22/2017; https://www.omim.org/entry/300166?search=lenz%20microphthalmia%20syndrome&highlight=lenz%20microphthalmia%20syndrome%20syndromic.

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