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)|
|Downturned corners of mouth||90%|
|Long palpebral fissure||90%|
|Low-set, posteriorly rotated ears||90%|
|Upslanted palpebral fissure||90%|
|Vertebral segmentation defect||90%|
|Abnormality of the upper urinary tract||50%|
|Aplasia/Hypoplasia of the corpus callosum||50%|
|Congenital diaphragmatic hernia||50%|
|Intrauterine growth retardation||50%|
|Tetralogy of Fallot||50%|
|Transposition of the great arteries||50%|
|Ventricular septal defect||50%|
|Abnormal facial shape||-|
|Abnormalities of placenta or umbilical cord||-|
|Agenesis of corpus callosum||-|
|Autosomal recessive inheritance||-|
|Low posterior hairline||-|
|Posteriorly rotated ears||-|
|Wide nasal bridge||-|
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.