Rare Gastroenterology News
Advertisement
Disease Profile
Microphthalmia syndromic 6
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 >
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
MCOPS6; Microphthalmia and pituitary anomalies; Microphthalmia with brain and digit developmental anomalies;
Categories
Congenital and Genetic Diseases; Eye diseases
Summary
Orpha Number: 139471
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 | ||
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 |
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 |
0001274 | |
Cryptorchidism |
Undescended testis
Undescended testes
[ more ] |
0000028 |
Finger |
0006101 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Inferior vermis hypoplasia | 0007068 | |
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 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Postaxial foot |
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 |
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 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 |
0000134 | |
Flexion |
0009600 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypospadias | 0000047 | |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Lambdoidal |
0004443 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Microglossia |
Abnormally small tongue
Underdevelopment of the tongue
[ more ] |
0000171 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Muscular |
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 ] |
DiagnosisMaking 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
Learn moreThese 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
Rare Gastroenterology News |