Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://covid19.nih.gov (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Microphthalmia syndromic 6
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Diagnosis
    • Find a Specialist
    • Learn More
    • News & Events
    • GARD Answers
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Microphthalmia syndromic 6


Title




Other Names:
MCOPS6; Microphthalmia and pituitary anomalies; Microphthalmia with brain and digit developmental anomalies; MCOPS6; Microphthalmia and pituitary anomalies; Microphthalmia with brain and digit developmental anomalies; Anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia; Syndromic microphthalmia type 6; Orofacial cleft 11 See More
Categories:
Congenital and Genetic Diseases; Eye diseases
This disease is grouped under:
Microphthalmia

Summary Summary


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

Orpha Number: 139471

Definition
Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

Visit the Orphanet disease page for more resources.
Last updated: 5/1/2008

Symptoms Symptoms


Listen

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.

Showing of 74 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anophthalmia
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ]
0000528
Microphthalmia
Abnormally small eyeball
0000568
30%-79% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Global developmental delay 0001263
Iris coloboma
Cat eye
0000612
Microcornea
Cornea of eye less than 10mm in diameter
0000482
5%-29% of people have these symptoms
Abnormality of the hypothalamus-pituitary axis 0000864
Agenesis of corpus callosum 0001274
Cryptorchidism
Undescended testis
Undescended testes
[ more ]
0000028
Finger syndactyly 0006101
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Inferior vermis hypoplasia 0007068
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Small head circumference
Reduced head circumference
[ more ]
0000252
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
0000545
Nail dysplasia
Atypical nail growth
0002164
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Retinal dystrophy
Breakdown of light-sensitive cells in back of eye
0000556
Sclerocornea
Hardening of skin and connective tissue
0000647
Seizure 0001250
Sensorineural hearing impairment 0000407
1%-4% of people have these symptoms
Abnormality of the cervical spine
Abnormal cervical spine
0003319
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
0001344
Adrenal hypoplasia
Small adrenal glands
0000835
Anterior hypopituitarism 0000830
Aplasia of the optic tract
Absent optic tract
0010999
Aplasia/Hypoplasia of the corpus callosum 0007370
Bifid scrotum
Cleft of scrotum
0000048
Blindness 0000618
Brachycephaly
Short and broad skull
0000248
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum
[ more ]
0001321
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Coloboma
Notched pupil
0000589
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
0000324
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Female hypogonadism 0000134
Flexion contracture of thumb 0009600
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Hypospadias 0000047
Hypothyroidism
Underactive thyroid
0000821
Lambdoidal craniosynostosis 0004443
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Microglossia
Abnormally small tongue
Underdevelopment of the tongue
[ more ]
0000171
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Micropenis
Short penis
Small penis
[ more ]
0000054
Muscular hypotonia
Low or weak muscle tone
0001252
Orbital cyst
Cyst of eye socket
0001144
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
0001357
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Preaxial hand polydactyly
Extra thumb
0001177
Protruding ear
Prominent ear
Prominent ears
[ more ]
0000411
Renal hypoplasia
Small kidneys
Underdeveloped kidneys
[ more ]
0000089
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
0000278
Short middle phalanx of finger
Short middle bone of finger
0005819
Small sella turcica 0010538
Ventriculomegaly 0002119
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Bifid uvula 0000193
Brachydactyly
Short fingers or toes
0001156
Delayed CNS myelination 0002188
High forehead 0000348
Macrotia
Large ears
0000400
Malar flattening
Zygomatic flattening
0000272
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
0011800
Psychomotor retardation 0025356
Severe muscular hypotonia
Severely decreased muscle tone
0006829
Single transverse palmar crease 0000954
Small scrotum
Underdeveloped scrotum
0030276
Toe syndactyly
Fused toes
Webbed toes
[ more ]
0001770
Uplifted earlobe
Lobe, uplifted
Upturned earlobe
[ more ]
0009909
Showing of 74 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


Listen

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


Listen

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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Learn More Learn More


Listen

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

  • 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 Microphthalmia syndromic 6. Click on the link to view a sample search on this topic.

News & Events News & Events


Listen

News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


Listen

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.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen