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

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

Orpha Number: 139471

Disease 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: 5/19/2008

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Anophthalmia	Absence of eyeballs Missing eyeball Failure of development of 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	Small head circumference Decreased circumference of cranium Reduced head circumference Decreased size of skull Abnormally small skull [ more ]	0000252
Myopia	Close sighted Near sightedness Near sighted 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
Seizures	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/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
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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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

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 Genetics Home Reference.

Learn More 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

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.

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