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 palate||90%|
|Depressed nasal bridge||90%|
|Tented upper lip vermilion||90%|
|Neurological speech impairment||50%|
|Abnormality of the hip bone||7.5%|
|Camptodactyly of finger||7.5%|
|Low posterior hairline||7.5%|
|Abnormality of blood and blood-forming tissues||-|
|Coarse facial features||-|
|Decreased testicular size||-|
|Delayed skeletal maturation||-|
|Infantile muscular hypotonia||-|
|Intellectual disability, progressive||-|
|Intellectual disability, severe||-|
|Lower limb hypertonia||-|
|Paroxysmal bursts of laughter||-|
|Posteriorly rotated ears||-|
|Radial deviation of finger||-|
|Sensorineural hearing impairment||-|
|Short upper lip||-|
|Thick lower lip vermilion||-|
|Triangular nasal tip||-|
|Upslanted palpebral fissure||-|
|U-Shaped upper lip vermilion||-|
|Wide nasal bridge||-|
|Widely-spaced maxillary central incisors||-|
|X-linked recessive inheritance||-|
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.