Bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a thumb that looks like a finger. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations.
People with DRRS may have a variety of other signs and symptoms including unusually shaped ears, hearing loss, heart and kidney defects, a distinctive facial appearance, an inward- and downward-turning foot (a clubfoot), and fused spinal bones (vertebrae).
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)|
|Slit-like opening of the exterior auditory meatus||Occasional
(present in 5%-29% of cases)
|Abnormality of the nasopharynx||-|
|Aplasia of metacarpal bones||-|
|Atrial septal defect||-|
|Autosomal dominant inheritance||-|
|Crossed fused renal ectopia||-|
|Fused cervical vertebrae||-|
|Hypoplasia of the radius||-|
|Hypoplasia of the ulna||-|
|Impaired ocular abduction||-|
|Impaired ocular adduction||-|
|Optic disc hypoplasia||-|
|Palpebral fissure narrowing on adduction||-|
|Radial deviation of the hand||-|
|Sensorineural hearing impairment||-|
|Small thenar eminence||-|
|Spina bifida occulta||-|
|Upper limb muscle hypoplasia||-|
|Ventricular septal defect||-|
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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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My daughter has Duane syndrome type 1. In addition, the thumb on her right hand looks more like a finger than a thumb and does not bend at all at the knuckle. She is also missing all of the muscle under this thumb in the area of her palm. Her hand specialist has diagnosed her with radial hypoplasia with absent radial movement. I wonder if my daughter may have Duane-radial ray syndrome. Can you provide me with information about this condition that I can share with my daughter's doctor? See answer