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)|
|Everted lower lip vermilion||90%|
|Hypoplasia of the zygomatic bone||90%|
|Low posterior hairline||90%|
|Prematurely aged appearance||90%|
|Abnormality of calvarial morphology||50%|
|Abnormality of the distal phalanx of finger||50%|
|Abnormality of the palate||50%|
|Abnormality of the teeth||50%|
|Abnormality of the toenails||50%|
|Depressed nasal bridge||50%|
|Low-set, posteriorly rotated ears||50%|
|Ulnar deviation of finger||50%|
|Abnormality of the antihelix||7.5%|
|Cerebral cortical atrophy||7.5%|
|Autosomal recessive inheritance||-|
|Broad nasal tip||-|
|Congestive heart failure||-|
|Feeding difficulties in infancy||-|
|Hypoplasia of the maxilla||-|
|Intellectual disability, progressive||-|
|Intellectual disability, severe||-|
|Misalignment of teeth||-|
|Posteriorly rotated ears||-|
|Recurrent respiratory infections||-|
|Short phalanx of finger||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.