Orpha Number: 166272
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 metaphysis | Very frequent (present in 80%-99% of cases) |
| Cone-shaped epiphysis | Very frequent (present in 80%-99% of cases) |
| Dentinogenesis imperfecta | Very frequent (present in 80%-99% of cases) |
| Joint hyperflexibility | Very frequent (present in 80%-99% of cases) |
| Micromelia | Very frequent (present in 80%-99% of cases) |
| Narrow chest | Very frequent (present in 80%-99% of cases) |
| Platyspondyly | Very frequent (present in 80%-99% of cases) |
| Short palm | Very frequent (present in 80%-99% of cases) |
| Coxa valga | Frequent (present in 30%-79% of cases) |
| Delayed eruption of teeth | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Square pelvis bone | Frequent (present in 30%-79% of cases) |
| Bowing of the long bones | Occasional (present in 5%-29% of cases) |
| Death in infancy | Occasional (present in 5%-29% of cases) |
| Frontal bossing | Occasional (present in 5%-29% of cases) |
| Patent ductus arteriosus | Occasional (present in 5%-29% of cases) |
| Respiratory distress | Occasional (present in 5%-29% of cases) |
| Retrognathia | Occasional (present in 5%-29% of cases) |
| Short nose | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| - | |
| Biconvex vertebral bodies | - |
| Cone-shaped epiphyses of the phalanges of the hand | - |
| Coronal cleft vertebrae | - |
| Delayed ossification of carpal bones | - |
| Flared iliac wings | - |
| Flat acetabular roof | - |
| Genu recurvatum | - |
| Genu varum | - |
| Irregular epiphyses | - |
| Joint hypermobility | - |
| Long philtrum | - |
| Mesomelia | - |
| Metaphyseal cupping | - |
| Metaphyseal widening | - |
| Motor delay | - |
| Narrow face | - |
| - | |
| Pectus carinatum | - |
| Prominent forehead | - |
| Short long bone | - |
| Short metacarpal | - |
| Short phalanx of finger | - |
| Small epiphyses | - |
| Spondylometaphyseal dysplasia | - |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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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Young Investigator Initiative Career Development and Grant Mentoring Program
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