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) |
| Cognitive impairment | 90% |
| Malar flattening | 90% |
| Muscular hypotonia | 90% |
| Round face | 90% |
| Abnormal hair quantity | 50% |
| Abnormality of the metacarpal bones | 50% |
| Abnormality of the palate | 50% |
| Anteverted nares | 50% |
| Aplasia/Hypoplasia of the eyebrow | 50% |
| Brachydactyly syndrome | 50% |
| Broad columella | 50% |
| Clinodactyly of the 5th finger | 50% |
| Deeply set eye | 50% |
| Depressed nasal bridge | 50% |
| Downturned corners of mouth | 50% |
| Eczema | 50% |
| Finger syndactyly | 50% |
| Frontal bossing | 50% |
| Highly arched eyebrow | 50% |
| Joint hypermobility | 50% |
| Microcephaly | 50% |
| Obesity | 50% |
| Seizures | 50% |
| Short foot | 50% |
| Short palm | 50% |
| Short stature | 50% |
| Single transverse palmar crease | 50% |
| Supernumerary nipple | 50% |
| Thin vermilion border | 50% |
| Toe syndactyly | 50% |
| Umbilical hernia | 50% |
| Underdeveloped nasal alae | 50% |
| Upslanted palpebral fissure | 50% |
| Abnormality of the aorta | 7.5% |
| Attention deficit hyperactivity disorder | 7.5% |
| Autism | 7.5% |
| Conductive hearing impairment | 7.5% |
| Congenital diaphragmatic hernia | 7.5% |
| Laryngomalacia | 7.5% |
| Macrocephaly | 7.5% |
| Multicystic kidney dysplasia | 7.5% |
| Nephroblastoma | 7.5% |
| Obsessive-compulsive behavior | 7.5% |
| Pyloric stenosis | 7.5% |
| Short neck | 7.5% |
| Sleep disturbance | 7.5% |
| Stereotypic behavior | 7.5% |
| Tracheomalacia | 7.5% |
| Arrhythmia | 5% |
| Sensorineural hearing impairment | 5% |
| Subaortic stenosis | 5% |
| Aggressive behavior | - |
| Brachycephaly | - |
| Broad face | - |
| Broad nasal tip | - |
| Congenital onset | - |
| Hyperactivity | - |
| Hyporeflexia | - |
| Intellectual disability | - |
| Midface retrusion | - |
| Pain insensitivity | - |
| Self-injurious behavior | - |
| Short metacarpal | - |
| Short metatarsal | - |
| Short phalanx of finger | - |
| Short toe | - |
| Somatic mutation | - |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
The following diseases are related to 2q37 deletion syndrome. If you have a question about any of these diseases, you can contact GARD.
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My niece has 2q37 deletion syndrome. I was wondering what causes it and if it can be a hidden trait. See answer
