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 eyebrow||90%|
|Abnormality of the ribs||90%|
|Camptodactyly of finger||90%|
|Clinodactyly of the 5th finger||90%|
|Convex nasal ridge||90%|
|Depressed nasal bridge||90%|
|Disproportionate tall stature||90%|
|Everted lower lip vermilion||90%|
|Hypoplasia of the zygomatic bone||90%|
|Narrow nasal bridge||90%|
|Abnormality of dental morphology||50%|
|Bowing of the long bones||50%|
|Delayed skeletal maturation||50%|
|Limitation of joint mobility||50%|
|Slender long bone||50%|
|Underdeveloped nasal alae||50%|
|Aplasia/Hypoplasia of the cerebellum||7.5%|
|Autosomal recessive inheritance||-|
|Camptodactyly of toe||-|
|Dislocated radial head||-|
|Distal ulnar hypoplasia||-|
|Elbow flexion contracture||-|
|Glenoid fossa hypoplasia||-|
|Hypoplasia of the maxilla||-|
|Joint contracture of the hand||-|
|Knee flexion contracture||-|
|Lateral clavicle hook||-|
|Single umbilical artery||-|
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.