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) |
| Cachexia | Very frequent (present in 80%-99% of cases) |
| Cognitive impairment | Very frequent (present in 80%-99% of cases) |
| Delayed skeletal maturation | Very frequent (present in 80%-99% of cases) |
| Intrauterine growth retardation | Very frequent (present in 80%-99% of cases) |
| Mild global developmental delay | Very frequent (present in 80%-99% of cases) |
| Narrow face | Very frequent (present in 80%-99% of cases) |
| Prematurely aged appearance | Very frequent (present in 80%-99% of cases) |
| Sandal gap | Very frequent (present in 80%-99% of cases) |
| Abnormality of dental enamel | Frequent (present in 30%-79% of cases) |
| Absent earlobe | Frequent (present in 30%-79% of cases) |
| Cone-shaped epiphysis | Frequent (present in 30%-79% of cases) |
| Downslanted palpebral fissures | Frequent (present in 30%-79% of cases) |
| Glaucoma | Frequent (present in 30%-79% of cases) |
| Hip dysplasia | Frequent (present in 30%-79% of cases) |
| Joint hyperflexibility | Frequent (present in 30%-79% of cases) |
| Reduced number of teeth | Frequent (present in 30%-79% of cases) |
| Sparse scalp hair | Frequent (present in 30%-79% of cases) |
| Ectopic kidney | Occasional (present in 5%-29% of cases) |
| Facial asymmetry | Occasional (present in 5%-29% of cases) |
| High palate | Occasional (present in 5%-29% of cases) |
| Scoliosis | Occasional (present in 5%-29% of cases) |
| High pitched voice | Very rare (present in 1%-4% of cases) |
| 11 pairs of ribs | - |
| Abnormal finger flexion creases | - |
| Abnormality of the pinna | - |
| Autosomal recessive inheritance | - |
| Blepharophimosis | - |
| Cerebellar hypoplasia | - |
| Cerebellar vermis hypoplasia | - |
| Cleft palate | - |
| Clinodactyly of the 5th finger | - |
| Clitoral hypertrophy | - |
| Cone-shaped epiphyses of the phalanges of the hand | - |
| Convex nasal ridge | - |
| Cryptorchidism | - |
| Dental crowding | - |
| Dental malocclusion | - |
| Dislocated radial head | - |
| Elbow flexion contracture | - |
| Few cafe-au-lait spots | - |
| Growth delay | - |
| Heart murmur | - |
| Hip dislocation | - |
| Hyperactivity | - |
| Hypoplasia of dental enamel | - |
| Hypoplasia of proximal fibula | - |
| Hypoplasia of proximal radius | - |
| Hypospadias | - |
| Intellectual disability | - |
| Ivory epiphyses | - |
| Large basal ganglia | - |
| Large eyes | - |
| Long nose | - |
| Low-set ears | - |
| Microcephaly | - |
| Microdontia | - |
| Microglossia | - |
| Micrognathia | - |
| Microphthalmia | - |
| Narrow forehead | - |
| Pachygyria | - |
| Pancytopenia | - |
| Pes planus | - |
| Postnatal growth retardation | - |
| Prominent nasal bridge | - |
| Prominent nose | - |
| Proportionate short stature | - |
| Seizures | - |
| Selective tooth agenesis | - |
| Single transverse palmar crease | - |
| Sloping forehead | - |
| Small anterior fontanelle | - |
| Small face | - |
| Small for gestational age | - |
| Strabismus | - |
| Talipes | - |
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
