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)|
|Abnormality of the eyelashes||90%|
|Aplasia/Hypoplasia of the eyebrow||90%|
|Short distal phalanx of finger||90%|
|Thin vermilion border||90%|
|Abnormal form of the vertebral bodies||50%|
|Abnormality of the cardiac septa||50%|
|Abnormality of the fingernails||50%|
|Abnormality of the neck||50%|
|Abnormality of the palate||50%|
|Abnormality of the ribs||50%|
|Anomalous pulmonary venous return||50%|
|Clinodactyly of the 5th finger||50%|
|Displacement of the external urethral meatus||50%|
|Downturned corners of mouth||50%|
|Hypoplasia of penis||50%|
|Impaired pain sensation||50%|
|Patent ductus arteriosus||50%|
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.
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