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)|
|Agenesis of corpus callosum||-|
|Autosomal recessive inheritance||-|
|Choroid plexus cyst||-|
|Cleft upper lip||-|
|Decreased fetal movement||-|
|Intrauterine growth retardation||-|
|Joint contracture of the hand||-|
|Patent ductus arteriosus||-|
|Patent foramen ovale||-|
|Radial deviation of finger||-|
|Rocker bottom foot||-|
|Short umbilical cord||-|
|Thick lower lip vermilion||-|
|Transposition of the great arteries||-|
|Ventricular septal defect||-|
|Yellow subcutaneous tissue covered by thin, scaly skin||-|
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.