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 calcification of the carpal bones | Very frequent (present in 80%-99% of cases) |
| Flat capital femoral epiphysis | Very frequent (present in 80%-99% of cases) |
| Hip dislocation | Very frequent (present in 80%-99% of cases) |
| Joint hyperflexibility | Very frequent (present in 80%-99% of cases) |
| Kyphosis | Very frequent (present in 80%-99% of cases) |
| Malar flattening | Very frequent (present in 80%-99% of cases) |
| Metaphyseal irregularity | Very frequent (present in 80%-99% of cases) |
| Micromelia | Very frequent (present in 80%-99% of cases) |
| Platyspondyly | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Skeletal dysplasia | Very frequent (present in 80%-99% of cases) |
| Slender metacarpals | Very frequent (present in 80%-99% of cases) |
| Abnormality of the patella | Frequent (present in 30%-79% of cases) |
| Abnormality of the sacrum | Frequent (present in 30%-79% of cases) |
| Anteverted nares | Frequent (present in 30%-79% of cases) |
| Enlarged thorax | Frequent (present in 30%-79% of cases) |
| Frontal bossing | Frequent (present in 30%-79% of cases) |
| Genu valgum | Frequent (present in 30%-79% of cases) |
| Laryngeal stenosis | Frequent (present in 30%-79% of cases) |
| Laryngotracheomalacia | Frequent (present in 30%-79% of cases) |
| Macrocephaly | Frequent (present in 30%-79% of cases) |
| Nail dysplasia | Frequent (present in 30%-79% of cases) |
| Osteoarthritis | Frequent (present in 30%-79% of cases) |
| Short nose | Frequent (present in 30%-79% of cases) |
| Wide nose | Frequent (present in 30%-79% of cases) |
| Genu varum | Occasional (present in 5%-29% of cases) |
| Low-set ears | Occasional (present in 5%-29% of cases) |
| Muscular |
Occasional (present in 5%-29% of cases) |
| Pes planus | Occasional (present in 5%-29% of cases) |
| Short neck | Occasional (present in 5%-29% of cases) |
| - | |
| Broad distal phalanx of finger | - |
| Carpal bone hypoplasia | - |
| Caudal interpedicular narrowing | - |
| - | |
| Delayed phalangeal epiphyseal ossification | - |
| Dislocated radial head | - |
| Flared metaphysis | - |
| Hypoplasia of the capital femoral epiphysis | - |
| Irregular epiphyses | - |
| Irregular vertebral endplates | - |
| Joint laxity | - |
| Large joint dislocations | - |
| Long distal phalanx of finger | - |
| Long proximal phalanx of finger | - |
| Midface retrusion | - |
| Narrow femoral neck | - |
| Posterior scalloping of vertebral bodies | - |
| Slender distal phalanx of finger | - |
| Slender proximal phalanx of finger | - |
| Small epiphyses | - |
| Soft skin | - |
| Spinal dysraphism | - |
| Spondyloepimetaphyseal dysplasia | - |
| Streaky metaphyseal sclerosis | - |
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
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