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 eyebrow | 90% |
| Abnormality of the ribs | 90% |
| Arachnodactyly | 90% |
| Blepharophimosis | 90% |
| Camptodactyly of finger | 90% |
| Clinodactyly of the 5th finger | 90% |
| Convex nasal ridge | 90% |
| Depressed nasal bridge | 90% |
| Disproportionate tall stature | 90% |
| Everted lower lip vermilion | 90% |
| Hallux valgus | 90% |
| Hypoplasia of the zygomatic bone | 90% |
| Long toe | 90% |
| Macrotia | 90% |
| Narrow nasal bridge | 90% |
| Abnormality of dental morphology | 50% |
| Bowing of the long bones | 50% |
| Delayed skeletal maturation | 50% |
| Elbow dislocation | 50% |
| Hypertelorism | 50% |
| Limitation of joint mobility | 50% |
| Slender long bone | 50% |
| Triphalangeal thumb | 50% |
| Underdeveloped nasal alae | 50% |
| Aplasia/Hypoplasia of the cerebellum | 7.5% |
| Laryngomalacia | 7.5% |
| Talipes | 7.5% |
| Sclerocornea | 5% |
| Autosomal recessive inheritance | - |
| Camptodactyly of toe | - |
| Craniosynostosis | - |
| Dental crowding | - |
| Dislocated radial head | - |
| Distal ulnar hypoplasia | - |
| Elbow flexion contracture | - |
| Femoral bowing | - |
| Glenoid fossa hypoplasia | - |
| High palate | - |
| Hypoplasia of the maxilla | - |
| Joint contracture of the hand | - |
| Knee flexion contracture | - |
| Lateral clavicle hook | - |
| Long hallux | - |
| Long metacarpals | - |
| Malar flattening | - |
| Narrow foot | - |
| Narrow nose | - |
| Pectus excavatum | - |
| Protruding ear | - |
| Single umbilical artery | - |
| Slender metacarpals | - |
| Stridor | - |
| Talipes equinovarus | - |
| Thin ribs | - |
| Ulnar bowing | - |
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.
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.
