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 iris | Very frequent (present in 80%-99% of cases) |
| Bullet-shaped distal phalanx of the hallux | Very frequent (present in 80%-99% of cases) |
| Camptodactyly of finger | Very frequent (present in 80%-99% of cases) |
| Cleft palate | Very frequent (present in 80%-99% of cases) |
| Downslanted palpebral fissures | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| Growth delay | Very frequent (present in 80%-99% of cases) |
| Hand clenching | Very frequent (present in 80%-99% of cases) |
| Intellectual disability | Very frequent (present in 80%-99% of cases) |
| Long fingers | Very frequent (present in 80%-99% of cases) |
| Low-set, posteriorly rotated ears | Very frequent (present in 80%-99% of cases) |
| Neonatal hypotonia | Very frequent (present in 80%-99% of cases) |
| Seizures | Very frequent (present in 80%-99% of cases) |
| Severe global developmental delay | Very frequent (present in 80%-99% of cases) |
| Short neck | Very frequent (present in 80%-99% of cases) |
| Small for gestational age | Very frequent (present in 80%-99% of cases) |
| Toe syndactyly | Very frequent (present in 80%-99% of cases) |
| Abnormality of oral frenula | Frequent (present in 30%-79% of cases) |
| Autistic behavior | Frequent (present in 30%-79% of cases) |
| Cataract | Frequent (present in 30%-79% of cases) |
| Coloboma | Frequent (present in 30%-79% of cases) |
| Hypertelorism | Frequent (present in 30%-79% of cases) |
| Microphthalmia | Frequent (present in 30%-79% of cases) |
| Short philtrum | Frequent (present in 30%-79% of cases) |
| Small face | Frequent (present in 30%-79% of cases) |
| Central apnea | Occasional (present in 5%-29% of cases) |
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.
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 Chromosome 2q24 microdeletion syndrome. If you have a question about any of these diseases, you can contact GARD.
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