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)|
|Camptodactyly of finger||90%|
|Limitation of joint mobility||90%|
|Proximal placement of thumb||50%|
|Single transverse palmar crease||50%|
|Abnormality of the fingernails||7.5%|
|Abnormality of the nipple||7.5%|
|Hypoplasia of penis||7.5%|
|Sacrococcygeal pilonidal abnormality||7.5%|
|Thickened nuchal skin fold||7.5%|
|Abnormality of metabolism/homeostasis||-|
|Decreased fetal movement||-|
|Degeneration of anterior horn cells||-|
|Multiple joint contractures||-|
|Respiratory insufficiency due to muscle weakness||-|
|Severe muscular hypotonia||-|
|Spinal muscular atrophy||-|
|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.
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