Orpha Number: 3237
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 vertebrae||-|
|Absent distal interphalangeal creases||-|
|Absent distal phalanges||-|
|Aplasia/Hypoplasia of the middle phalanges of the hand||-|
|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||-|
|Single transverse palmar crease||-|
|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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