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) |
| Abnormal facial shape | 90% |
| Abnormality of dental morphology | 90% |
| Cognitive impairment | 90% |
| Decreased antibody level in blood | 90% |
| Delayed eruption of teeth | 90% |
| Depressed nasal bridge | 90% |
| External ear malformation | 90% |
| Hypertelorism | 90% |
| Increased number of teeth | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Lymphangioma | 90% |
| Lymphedema | 90% |
| Lymphopenia | 90% |
| Malabsorption | 90% |
| Malar flattening | 90% |
| Reduced number of teeth | 90% |
| Abnormality of the genital system | 50% |
| Ascites | 50% |
| Broad forehead | 50% |
| Epicanthus | 50% |
| Erysipelas | 50% |
| Gingival overgrowth | 50% |
| Lymphadenopathy | 50% |
| Narrow chest | 50% |
| Recurrent respiratory infections | 50% |
| Seizures | 50% |
| Splenomegaly | 50% |
| Abnormal localization of kidney | 7.5% |
| Abnormality of neuronal migration | 7.5% |
| Abnormality of the foot | 7.5% |
| Abnormality of the pericardium | 7.5% |
| Abnormality of the pleura | 7.5% |
| Arteriovenous malformation | 7.5% |
| Benign neoplasm of the central nervous system | 7.5% |
| Camptodactyly of finger | 7.5% |
| Conductive hearing impairment | 7.5% |
| Craniosynostosis | 7.5% |
| Finger syndactyly | 7.5% |
| Glaucoma | 7.5% |
| Hydrops fetalis | 7.5% |
| Hypocalcemia | 7.5% |
| Narrow mouth | 7.5% |
| Pyloric stenosis | 7.5% |
| Respiratory insufficiency | 7.5% |
| Short philtrum | 7.5% |
| Atria septal defect | - |
| Autosomal recessive inheritance | - |
| Bilateral single transverse palmar creases | - |
| Camptodactyly | - |
| Conical incisor | - |
| Coronal craniosynostosis | - |
| Cryptorchidism | - |
| Cutaneous finger syndactyly | - |
| Delayed skeletal maturation | - |
| Ectopic kidney | - |
| Flat face | - |
| Hirsutism | - |
| Horseshoe kidney | - |
| Hydronephrosis | - |
| Hyperactivity | - |
| Hypoalbuminemia | - |
| Hypoplastic iliac wing | - |
| Intellectual disability | - |
| Intestinal lymphangiectasia | - |
| Joint contracture of the hand | - |
| Low-set ears | - |
| Mild postnatal growth retardation | - |
| Narrow palate | - |
| Oligodontia | - |
| Pachygyria | - |
| Pectus excavatum | - |
| Pericardial effusion | - |
| Pericardial lymphangiectasia | - |
| Periorbital edema | - |
| Pleural effusion | - |
| Pleural lymphangiectasia | - |
| Protein-losing enteropathy | - |
| Rectal prolapse | - |
| Retrognathia | - |
| Scoliosis | - |
| Sensorineural hearing impairment | - |
| Short foot | - |
| Short palm | - |
| Small hand | - |
| Smooth philtrum | - |
| Spina bifida occulta | - |
| Talipes equinovarus | - |
| Thyroid lymphangiectasia | - |
| Umbilical hernia | - |
| Ventricular septal defect | - |
| Vesicoureteral reflux | - |
| Wide nasal bridge | - |
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.
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. Suggest an organization to add.
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.
