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%|
|Increased nuchal translucency||90%|
|Opacification of the corneal stroma||90%|
|Skeletal muscle atrophy||90%|
|Abnormal lung lobation||7.5%|
|Abnormal nasal morphology||7.5%|
|Abnormality of immune system physiology||7.5%|
|Abnormality of skin pigmentation||7.5%|
|Abnormality of the aorta||7.5%|
|Aplasia/Hypoplasia of the cerebellum||7.5%|
|Aplasia/Hypoplasia of the corpus callosum||7.5%|
|Atria septal defect||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Depressed nasal ridge||7.5%|
|Intrauterine growth retardation||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Multicystic kidney dysplasia||7.5%|
|Neoplasm of the colon||7.5%|
|Neoplasm of the stomach||7.5%|
|Agenesis of corpus callosum||-|
|Autosomal recessive inheritance||-|
|Depressed nasal bridge||-|
|Feeding difficulties in infancy||-|
|Generalized myoclonic seizures||-|
|Generalized tonic-clonic seizures||-|
|Hypodysplasia of the corpus callosum||-|
|Intellectual disability, profound||-|
|Posteriorly rotated ears||-|
|Postnatal growth retardation||-|
|Premature chromatid separation||-|
|Severe global developmental delay||-|
|Small for gestational age||-|
|Upslanted palpebral fissure||-|
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.
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.
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.