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Disease Profile

Microphthalmia syndromic 6

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

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)

MCOPS6; Microphthalmia and pituitary anomalies; Microphthalmia with brain and digit developmental anomalies;

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

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.

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
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 ]

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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