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 epiphysis morphology | 90% |
| Abnormality of the clavicle | 90% |
| Abnormality of the fingernails | 90% |
| Abnormality of the palate | 90% |
| Brachydactyly syndrome | 90% |
| Delayed eruption of teeth | 90% |
| Frontal bossing | 90% |
| High forehead | 90% |
| Malar flattening | 90% |
| Osteolysis | 90% |
| Recurrent fractures | 90% |
| Short distal phalanx of finger | 90% |
| Short stature | 90% |
| Short toe | 90% |
| Skeletal dysplasia | 90% |
| Abnormality of dental morphology | 50% |
| Anonychia | 50% |
| Blue sclerae | 50% |
| Bone pain | 50% |
| Proptosis | 50% |
| Wormian bones | 50% |
| Abnormal pattern of respiration | 7.5% |
| Abnormality of pelvic girdle bone morphology | 7.5% |
| Anemia | 7.5% |
| Cognitive impairment | 7.5% |
| Hepatomegaly | 7.5% |
| Hydrocephalus | 7.5% |
| Hyperlordosis | 7.5% |
| Kyphosis | 7.5% |
| Narrow chest | 7.5% |
| Osteomyelitis | 7.5% |
| Splenomegaly | 7.5% |
| Abnormality of the thorax | - |
| Absent frontal sinuses | - |
| Autosomal recessive inheritance | - |
| Delayed eruption of permanent teeth | - |
| Delayed eruption of primary teeth | - |
| Hypodontia | - |
| Increased bone mineral density | - |
| Narrow palate | - |
| Osteolytic defects of the distal phalanges of the hand | - |
| Persistence of primary teeth | - |
| Persistent open anterior fontanelle | - |
| Prominent nose | - |
| Prominent occiput | - |
| Ridged nail | - |
| Scoliosis | - |
| Spondylolisthesis | - |
| Spondylolysis | - |
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.
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.
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis
Sunday, June 15, 2014 -
Friday, June 20, 2014
Location: Proctor Academy,
Andover,
NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.
Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov
Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research
