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)|
|Conductive hearing impairment||90%|
|Limitation of joint mobility||90%|
|Symphalangism affecting the phalanges of the hand||90%|
|Abnormality of thumb phalanx||50%|
|Single transverse palmar crease||50%|
|Abnormality of the nail||7.5%|
|2-3 toe syndactyly||-|
|Abnormality of the vertebrae||-|
|Absent distal interphalangeal creases||-|
|Absent distal phalanges||-|
|Aplasia/Hypoplasia of the middle phalanges of the hand||-|
|Autosomal dominant inheritance||-|
|Cutaneous finger syndactyly||-|
|Dislocated radial head||-|
|Enlargement of the costochondral junction||-|
|Fusion of midphalangeal joints||-|
|Hypoplastic nasal septum||-|
|Hypoplastic spinal processes||-|
|Lower limb undergrowth||-|
|Progressive conductive hearing impairment||-|
|Proximal symphalangism of hands||-|
|Radial deviation of finger||-|
|Short lower limbs||-|
|Spinal canal stenosis||-|
|Thick upper lip vermilion||-|
|Underdeveloped nasal alae||-|
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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