National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Lenz microphthalmia syndrome

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Other Names:
Microphthalmia syndromic 1; MCOPS1; Lenz dysplasia; Microphthalmia syndromic 1; MCOPS1; Lenz dysplasia; Syndromic microphthalmia type 1; MAA (formerly); Microphthalmia or anophthalmos with associated anomalies (formerly); Microphthalmia Lenz type See More
Categories:
This disease is grouped under:
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]
Last updated: 1/4/2019

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.

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Medical Terms Other Names
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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, nonspecific
Mental-retardation
[ 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
Abnormality of cardiovascular system morphology 0030680
Abnormality of the clavicle
Abnormal collarbone
0000889
Abnormality of the shoulder 0003043
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
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
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] 		0000528
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Blindness 0000618
Camptodactyly
Permanent flexion of the finger or toe
0012385
Ciliary body coloboma 0020006
Cleft upper lip
Harelip
0000204
Clinodactyly
Permanent curving of the finger
0030084
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] 		0000678
Down-sloping shoulders
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ] 		0200021
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Joint contracture of the hand 0009473
Kyphoscoliosis 0002751
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Misalignment of teeth
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth
[ more ] 		0000692
Motor delay 0001270
Narrow chest
Low chest circumference
Narrow shoulders
[ more ] 		0000774
Overfolded helix
Overfolded ears
0000396
Pectus excavatum
Funnel chest
0000767
Ptosis
Drooping upper eyelid
0000508
Pyloric stenosis 0002021
Radial deviation of finger 0009466
Rectal prolapse
Rectum protrudes through anus
0002035
Recurrent otitis media
Recurrent middle ear infection
0000403
Renal hypoplasia
Small kidneys
Underdeveloped kidneys
[ more ] 		0000089
Self-mutilation
Deliberate self-harm
Self mutilation
[ more ] 		0000742
Short clavicles
Short collarbone
0000894
Spastic diplegia 0001264
Syndactyly
Webbed fingers or toes
0001159
X-linked inheritance 0001417
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Lenz microphthalmia syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.