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) |
| Broad forehead | 33% |
| Highly arched eyebrow | 33% |
| Long philtrum | 33% |
| Sparse eyebrow | 33% |
| Aortic regurgitation | - |
| Aortic valve stenosis | - |
| Arthralgia | - |
| Arthropathy | - |
| Autosomal dominant inheritance | - |
| Autosomal recessive inheritance | - |
| Barrel-shaped chest | - |
| Bilateral single transverse palmar creases | - |
| Brachydactyly syndrome | - |
| Camptodactyly of finger | - |
| Coronal cleft vertebrae | - |
| Cubitus valgus | - |
| Decreased hip abduction | - |
| Delayed eruption of teeth | - |
| Delayed gross motor development | - |
| Delayed skeletal maturation | - |
| Deviation of the 5th finger | - |
| Elbow dislocation | - |
| Fixed elbow flexion | - |
| Flattened epiphysis | - |
| Generalized bone demineralization | - |
| Genu valgum | - |
| Hearing impairment | - |
| High palate | - |
| Hypertelorism | - |
| Hypoplasia of the capital femoral epiphysis | - |
| Hypoplasia of the ulna | - |
| Intervertebral space narrowing | - |
| Irregular vertebral endplates | - |
| Knee dislocation | - |
| Kyphoscoliosis | - |
| Limited hip extension | - |
| Lumbar hyperlordosis | - |
| Microdontia | - |
| Microtia | - |
| Mitral regurgitation | - |
| Mitral stenosis | - |
| Multiple carpal ossification centers | - |
| Narrow vertebral interpedicular distance | - |
| Pes planus | - |
| Pulmonary hypertension | - |
| Pulmonic stenosis | - |
| Rhizomelia | - |
| Short distal phalanx of finger | - |
| Short femoral neck | - |
| Short metacarpal | - |
| Short neck | - |
| Short phalanx of finger | - |
| Shoulder dislocation | - |
| Small epiphyses | - |
| Spondyloepiphyseal dysplasia | - |
| Talipes equinovarus | - |
| Tibial bowing | - |
| Tricuspid regurgitation | - |
| Tricuspid stenosis | - |
| Ulnar bowing | - |
| Ventricular hypertrophy | - |
| Ventricular septal defect | - |
| Waddling gait | - |
| Wide intermamillary distance | - |
| Widely spaced teeth | - |
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.
