Orpha Number: 1662
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 pinna||-|
|Aplasia/Hypoplasia of the eyebrow||-|
|Atrial septal defect||-|
|Decreased calvarial ossification||-|
|Decreased fetal movement||-|
|Increased anterioposterior diameter of thorax||-|
|Intrauterine growth retardation||-|
|Narrow nasal ridge||-|
|Overtubulated long bones||-|
|Patent ductus arteriosus||-|
|Premature rupture of membranes||-|
|Prominent superficial blood vessels||-|
|Rocker bottom foot||-|
|Short palpebral fissure||-|
|Short umbilical cord||-|
|Submucous cleft hard palate||-|
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.
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