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 bone mineral density | 90% |
| Abnormality of the hip bone | 90% |
| Abnormality of the metacarpal bones | 90% |
| Abnormality of the wrist | 90% |
| Depressed nasal bridge | 90% |
| Kyphosis | 90% |
| Malar flattening | 90% |
| Micromelia | 90% |
| Platyspondyly | 90% |
| Scoliosis | 90% |
| Short stature | 90% |
| Skeletal dysplasia | 90% |
| Abnormality of the fingernails | 50% |
| Abnormality of the larynx | 50% |
| Abnormality of the sacrum | 50% |
| Anteverted nares | 50% |
| Cognitive impairment | 50% |
| Enlarged thorax | 50% |
| Frontal bossing | 50% |
| Genu valgum | 50% |
| Macrocephaly | 50% |
| Osteoarthritis | 50% |
| Patellar aplasia | 50% |
| Short nose | 50% |
| Tracheomalacia | 50% |
| Genu varum | 7.5% |
| Low-set, posteriorly rotated ears | 7.5% |
| Muscular hypotonia | 7.5% |
| Pes planus | 7.5% |
| Short neck | 7.5% |
| Autosomal dominant inheritance | - |
| Broad distal phalanx of finger | - |
| Carpal bone hypoplasia | - |
| Caudal interpedicular narrowing | - |
| Congenital hip dislocation | - |
| Delayed phalangeal epiphyseal ossification | - |
| Dislocated radial head | - |
| Flared metaphysis | - |
| Flat capital femoral epiphysis | - |
| 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 | - |
| Metaphyseal irregularity | - |
| 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.
