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 outer ear||90%|
|Aplasia/Hypoplasia involving the nose||90%|
|Aplasia/Hypoplasia of the lungs||90%|
|Abnormal lung lobation||50%|
|Abnormal vertebral ossification||50%|
|Abnormality of the larynx||50%|
|Abnormality of the ribs||50%|
|Abnormality of the sense of smell||50%|
|Aplasia/Hypoplasia of the corpus callosum||50%|
|Aplasia/Hypoplasia of the nipples||50%|
|Multicystic kidney dysplasia||50%|
|Abnormality of the diaphragm||-|
|Absent external genitalia||-|
|Adrenal gland agenesis||-|
|Autosomal recessive inheritance||-|
|Cleft upper lip||-|
|Hypoplasia of the fallopian tube||-|
|Peripheral pulmonary vessel aplasia||-|
|Single umbilical artery||-|
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.
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