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 form of the vertebral bodies | 90% |
| Craniosynostosis | 90% |
| Hypertelorism | 90% |
| Reduced number of teeth | 90% |
| Short stature | 90% |
| Abnormality of the clavicle | 50% |
| Abnormality of the pinna | 50% |
| Anteverted nares | 50% |
| Delayed skeletal maturation | 50% |
| Limb undergrowth | 50% |
| Abnormality of bone mineral density | 7.5% |
| Brachydactyly syndrome | 7.5% |
| Choanal atresia | 7.5% |
| Cognitive impairment | 7.5% |
| Cryptorchidism | 7.5% |
| Hernia of the abdominal wall | 7.5% |
| Scoliosis | 7.5% |
| Abnormality of the nasopharynx | - |
| Autosomal dominant inheritance | - |
| Bowing of the long bones | - |
| Broad foot | - |
| Broad metacarpals | - |
| Broad metatarsal | - |
| Broad palm | - |
| Broad phalanx | - |
| Chordee | - |
| Cloverleaf skull | - |
| Delayed speech and language development | - |
| Depressed nasal bridge | - |
| Failure to thrive | - |
| Frontal bossing | - |
| High palate | - |
| Hypoplastic scapulae | - |
| Hypoplastic toenails | - |
| Hypospadias | - |
| Increased susceptibility to fractures | - |
| Inguinal hernia | - |
| Long philtrum | - |
| Low-set ears | - |
| Malar flattening | - |
| Mandibular prognathia | - |
| Midface retrusion | - |
| Nasal obstruction | - |
| Platyspondyly | - |
| Pseudoarthrosis | - |
| Respiratory distress | - |
| Rhizomelia | - |
| Shallow orbits | - |
| Short foot | - |
| Short metacarpal | - |
| Short metatarsal | - |
| Short neck | - |
| Short nose | - |
| Short palm | - |
| Short phalanx of finger | - |
| Unerupted tooth | - |
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. Suggest an organization to add.
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.
International Skeletal Dysplasia Society Conference: Sixth International Conference Sunday, August 31, 2003 -
Sunday, August 24, 2003
Location: Airlie House Conference Center,
Warrenton,
VA
Description: The International Skeletal Dysplasia Society (ISDS) is an international organization of medical geneticists, orthopedists, radiologists, and other professionals dedicated to research and patient care for the skeletal dysplasias. The organization has a membership of more than 150 professionals who meet every 2 years to present ongoing basic and clinical research and explore collaborative opportunities. This conference highlighted the areas most in need of attention and stimulated interest in and action toward addressing those needs. Participants included the members of the ISDS and their trainees as well as others who are working in the broad fields of skeletal biology, signal transduction, and metabolic bone disease.
Contact: Dr. Claire A. Francomano(301) 402-8255
Co-funding Institute(s): National Institute on Aging
