The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Anophthalmia | Very frequent (present in 80%-99% of cases) |
| Microphthalmia | Very frequent (present in 80%-99% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Chorioretinal coloboma | Frequent (present in 30%-79% of cases) |
| Iris coloboma | Frequent (present in 30%-79% of cases) |
| Microcornea | Frequent (present in 30%-79% of cases) |
| Abnormality of the hypothalamus-pituitary axis | Occasional (present in 5%-29% of cases) |
| Agenesis of |
Occasional (present in 5%-29% of cases) |
| Cryptorchidism | Occasional (present in 5%-29% of cases) |
| Finger |
Occasional (present in 5%-29% of cases) |
| High palate | Occasional (present in 5%-29% of cases) |
| Inferior vermis hypoplasia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Myopia | Occasional (present in 5%-29% of cases) |
| Nail dysplasia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Postaxial foot |
Occasional (present in 5%-29% of cases) |
| Proximal placement of thumb | Occasional (present in 5%-29% of cases) |
| Retinal dystrophy | Occasional (present in 5%-29% of cases) |
| Sclerocornea | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Sensorineural hearing impairment | Occasional (present in 5%-29% of cases) |
| Abnormality of the cervical spine | Very rare (present in 1%-4% of cases) |
| Absent speech | Very rare (present in 1%-4% of cases) |
| Adrenal hypoplasia | Very rare (present in 1%-4% of cases) |
| Anterior hypopituitarism | Very rare (present in 1%-4% of cases) |
| Aplasia/Hypoplasia of the corpus callosum | Very rare (present in 1%-4% of cases) |
| Bifid scrotum | Very rare (present in 1%-4% of cases) |
| Blindness | Very rare (present in 1%-4% of cases) |
| Brachycephaly | Very rare (present in 1%-4% of cases) |
| Cerebellar hypoplasia | Very rare (present in 1%-4% of cases) |
| Cerebral cortical atrophy | Very rare (present in 1%-4% of cases) |
| Clinodactyly of the 5th finger | Very rare (present in 1%-4% of cases) |
| Coloboma | Very rare (present in 1%-4% of cases) |
| Facial asymmetry | Very rare (present in 1%-4% of cases) |
| Failure to thrive | Very rare (present in 1%-4% of cases) |
| Female |
Very rare (present in 1%-4% of cases) |
| Flexion |
Very rare (present in 1%-4% of cases) |
| Hearing impairment | Very rare (present in 1%-4% of cases) |
| Hypospadias | Very rare (present in 1%-4% of cases) |
| Hypothyroidism | Very rare (present in 1%-4% of cases) |
| Lambdoidal |
Very rare (present in 1%-4% of cases) |
| Low-set ears | Very rare (present in 1%-4% of cases) |
| Microglossia | Very rare (present in 1%-4% of cases) |
| Very rare (present in 1%-4% of cases) |
|
| Micropenis | Very rare (present in 1%-4% of cases) |
| Muscular |
Very rare (present in 1%-4% of cases) |
| Orbital cyst | Very rare (present in 1%-4% of cases) |
| Plagiocephaly | Very rare (present in 1%-4% of cases) |
| Posteriorly rotated ears | Very rare (present in 1%-4% of cases) |
| Protruding ear | Very rare (present in 1%-4% of cases) |
| Renal hypoplasia | Very rare (present in 1%-4% of cases) |
| Retrognathia | Very rare (present in 1%-4% of cases) |
| Short middle phalanx of finger | Very rare (present in 1%-4% of cases) |
| Small sella turcica | Very rare (present in 1%-4% of cases) |
| Ventriculomegaly | Very rare (present in 1%-4% of cases) |
| - | |
| Bifid uvula | - |
| - | |
| Delayed |
- |
| High forehead | - |
| Macrotia | - |
| Malar flattening | - |
| Midface retrusion | - |
| Severe muscular hypotonia | - |
| Single transverse palmar crease | - |
| Small scrotum | - |
| Toe syndactyly | - |
| Uplifted earlobe | - |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
The following diseases are related to Microphthalmia syndromic 6. If you have a question about any of these diseases, you can contact GARD.
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.
