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) |
| Biparietal narrowing | Very frequent (present in 80%-99% of cases) |
| Camptodactyly of finger | Very frequent (present in 80%-99% of cases) |
| Convex nasal ridge | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| Feeding difficulties | Very frequent (present in 80%-99% of cases) |
| Full cheeks | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Intrauterine growth retardation | Very frequent (present in 80%-99% of cases) |
| Limitation of joint mobility | Very frequent (present in 80%-99% of cases) |
| Low anterior hairline | Very frequent (present in 80%-99% of cases) |
| Low-set ears | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Nevus flammeus of the forehead | Very frequent (present in 80%-99% of cases) |
| Prominent metopic ridge | Very frequent (present in 80%-99% of cases) |
| Proptosis | Very frequent (present in 80%-99% of cases) |
| Retrognathia | Very frequent (present in 80%-99% of cases) |
| Thick hair | Very frequent (present in 80%-99% of cases) |
| Trigonocephaly | Very frequent (present in 80%-99% of cases) |
| Ulnar deviation of finger | Very frequent (present in 80%-99% of cases) |
| Underdeveloped supraorbital ridges | Very frequent (present in 80%-99% of cases) |
| Upslanted palpebral fissure | Very frequent (present in 80%-99% of cases) |
| Wide nasal bridge | Very frequent (present in 80%-99% of cases) |
| Abnormality of cardiovascular system morphology | Frequent (present in 30%-79% of cases) |
| Abnormality of the anterior chamber | Frequent (present in 30%-79% of cases) |
| Abnormality of the pancreas | Frequent (present in 30%-79% of cases) |
| Accessory oral frenulum | Frequent (present in 30%-79% of cases) |
| Cerebral cortical atrophy | Frequent (present in 30%-79% of cases) |
| Cleft upper lip | Frequent (present in 30%-79% of cases) |
| Death in infancy | Frequent (present in 30%-79% of cases) |
| Elbow dislocation | Frequent (present in 30%-79% of cases) |
| Gastroesophageal reflux | Frequent (present in 30%-79% of cases) |
| Hypertelorism | Frequent (present in 30%-79% of cases) |
| Hypoplasia of the |
Frequent (present in 30%-79% of cases) |
| Intestinal malrotation | Frequent (present in 30%-79% of cases) |
| Narrow chest | Frequent (present in 30%-79% of cases) |
| Platyspondyly | Frequent (present in 30%-79% of cases) |
| Retinopathy | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Short thorax | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Supernumerary nipple | Frequent (present in 30%-79% of cases) |
| Synophrys | Frequent (present in 30%-79% of cases) |
| Wide intermamillary distance | Frequent (present in 30%-79% of cases) |
| Abnormality of the kidney | Occasional (present in 5%-29% of cases) |
| Dandy-Walker malformation | Occasional (present in 5%-29% of cases) |
| Hearing impairment | Occasional (present in 5%-29% of cases) |
| Inguinal hernia | Occasional (present in 5%-29% of cases) |
| Myopia | Occasional (present in 5%-29% of cases) |
| Polyhydramnios | Occasional (present in 5%-29% of cases) |
| Short foot | Occasional (present in 5%-29% of cases) |
| Talipes | Occasional (present in 5%-29% of cases) |
| Abnormality of the optic nerve | - |
| Agenesis of corpus callosum | - |
| Atrial septal defect | - |
| - | |
| - | |
| Broad alveolar ridges | - |
| Camptodactyly | - |
| Deep palmar crease | - |
| Deep plantar creases | - |
| Delayed peripheral myelination | - |
| Dislocated radial head | - |
| Facial hemangioma | - |
| Heterotopia | - |
| Hirsutism | - |
| Hyperechogenic pancreas | - |
| Hypoplasia of the brainstem | - |
| Intellectual disability, profound | - |
| Long face | - |
| Mesomelic/rhizomelic limb shortening | - |
| - | |
| Muscular |
- |
| Narrow forehead | - |
| Narrow palate | - |
| Nevus flammeus | - |
| Overlapping toe | - |
| Posteriorly rotated ears | - |
| Prominent forehead | - |
| Sacral dimple | - |
| Short toe | - |
| - | |
| Tapered finger | - |
| Ulnar deviation of the wrist | - |
| Ventricular septal defect | - |
| Vesicoureteral reflux | - |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.
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