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)|
|Abnormal hair quantity||90%|
|Abnormality of the fingernails||90%|
|Abnormality of female internal genitalia||50%|
|Abnormality of the wrist||50%|
|Aplasia/Hypoplasia of the nipples||50%|
|Hypoplasia of penis||50%|
|Abnormality of the humerus||7.5%|
|Abnormality of the metacarpal bones||7.5%|
|Aplasia of the pectoralis major muscle||7.5%|
|Camptodactyly of finger||7.5%|
|Hernia of the abdominal wall||7.5%|
|Postaxial hand polydactyly||7.5%|
|Reduced number of teeth||7.5%|
|Short distal phalanx of finger||7.5%|
|Ventricular septal defect||7.5%|
|Anterior pituitary hypoplasia||-|
|Autosomal dominant inheritance||-|
|Axillary apocrine gland hypoplasia||-|
|Ectopic posterior pituitary||-|
|Hypoplasia of the radius||-|
|Hypoplasia of the ulna||-|
|Short 4th toe||-|
|Short 5th toe||-|
|Sparse axillary hair||-|
|Sparse lateral eyebrow||-|
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.
Genetic Analysis of Limb Malformation Disorders
University of Washington SOM
Department of Pediatrics
Division of Genetics & Developmental Medicine
1959 NE Pacific St. HSB RR349 B
Seattle, WA 98195-6320 USA
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.