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%|
|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%|
|Postaxial foot polydactyly||7.5%|
|Proximal placement of thumb||7.5%|
|Sensorineural hearing impairment||7.5%|
|Aplasia/Hypoplasia of the corpus callosum||3/9|
|Failure to thrive||2/6|
|Cerebral cortical atrophy||2/9|
|Inferior vermis hypoplasia||2/9|
|Preaxial hand polydactyly||2/11|
|Small sella turcica||1/6|
|Abnormality of the cervical spine||1/10|
|Clinodactyly of the 5th finger||1/11|
|Flexion contracture of thumb||1/11|
|Posteriorly rotated ears||1/11|
|Short middle phalanx of finger||1/11|
|Autosomal dominant inheritance||-|
|Delayed CNS myelination||-|
|Severe muscular hypotonia||-|
|Single transverse palmar crease||-|
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.