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) |
| Aplasia/Hypoplasia affecting the eye | 90% |
| Microphthalmia | 90% |
| Cataract | 50% |
| Chorioretinal coloboma | 50% |
| Cognitive impairment | 50% |
| Iris coloboma | 50% |
| Microcornea | 50% |
| Abnormality of the fingernails | 7.5% |
| Abnormality of the hypothalamus-pituitary axis | 7.5% |
| Abnormality of the palate | 7.5% |
| Abnormality of the palpebral fissures | 7.5% |
| Aplasia/Hypoplasia of the cerebellum | 7.5% |
| Aplasia/Hypoplasia of the corpus callosum | 7.5% |
| Cryptorchidism | 7.5% |
| Finger syndactyly | 7.5% |
| Microcephaly | 7.5% |
| Myopia | 7.5% |
| Nystagmus | 7.5% |
| Postaxial foot polydactyly | 7.5% |
| Proximal placement of thumb | 7.5% |
| Sclerocornea | 7.5% |
| Seizures | 7.5% |
| Sensorineural hearing impairment | 7.5% |
| Myopia | 3/3 |
| Anophthalmia | 9/10 |
| Blindness | 8/11 |
| Coloboma | 3/5 |
| High palate | 3/6 |
| Microcephaly | 3/6 |
| Sclerocornea | 2/5 |
| Absent speech | 2/6 |
| Anterior hypopituitarism | 2/6 |
| Aplasia/Hypoplasia of the corpus callosum | 3/9 |
| Cryptorchidism | 2/6 |
| Failure to thrive | 2/6 |
| Hearing impairment | 2/6 |
| Microcornea | 1/3 |
| Muscular hypotonia | 2/6 |
| Nystagmus | 1/3 |
| Orbital cyst | 1/3 |
| Retinal dystrophy | 1/3 |
| Retrognathia | 2/6 |
| Ventriculomegaly | 3/9 |
| Cerebral cortical atrophy | 2/9 |
| Hypothyroidism | 2/9 |
| Inferior vermis hypoplasia | 2/9 |
| Female hypogonadism | 1/5 |
| Preaxial hand polydactyly | 2/11 |
| Adrenal hypoplasia | 1/6 |
| Bifid scrotum | 1/6 |
| Brachycephaly | 1/6 |
| Hypospadias | 1/6 |
| Microglossia | 1/6 |
| Micropenis | 1/6 |
| Renal hypoplasia | 1/6 |
| Small sella turcica | 1/6 |
| Cerebellar hypoplasia | 1/9 |
| Plagiocephaly | 1/9 |
| Abnormality of the cervical spine | 1/10 |
| Facial asymmetry | 1/10 |
| Lambdoidal craniosynostosis | 1/10 |
| Clinodactyly of the 5th finger | 1/11 |
| Finger syndactyly | 1/11 |
| Flexion contracture of thumb | 1/11 |
| Low-set ears | 1/11 |
| Posteriorly rotated ears | 1/11 |
| Protruding ear | 1/11 |
| Short middle phalanx of finger | 1/11 |
| Autosomal dominant inheritance | - |
| Bifid uvula | - |
| Brachydactyly syndrome | - |
| Delayed CNS myelination | - |
| 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.
