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) |
| Delayed speech and language development | Very frequent (present in 80%-99% of cases) |
| Long fingers | Very frequent (present in 80%-99% of cases) |
| Long toe | Very frequent (present in 80%-99% of cases) |
| Mild global developmental delay | Very frequent (present in 80%-99% of cases) |
| Moderate global developmental delay | Very frequent (present in 80%-99% of cases) |
| Frontal bossing | Frequent (present in 30%-79% of cases) |
| Intrauterine growth retardation | Frequent (present in 30%-79% of cases) |
| Microcephaly | Frequent (present in 30%-79% of cases) |
| Patent ductus arteriosus | Frequent (present in 30%-79% of cases) |
| Pulmonary arterial |
Frequent (present in 30%-79% of cases) |
| Abnormality of epiphysis morphology | Occasional (present in 5%-29% of cases) |
| Atrial septal defect | Occasional (present in 5%-29% of cases) |
| Behavioral abnormality | Occasional (present in 5%-29% of cases) |
| Bifid nose | Occasional (present in 5%-29% of cases) |
| Bilateral single transverse palmar creases | Occasional (present in 5%-29% of cases) |
| Blepharitis | Occasional (present in 5%-29% of cases) |
| Bulbous nose | Occasional (present in 5%-29% of cases) |
| Chronic otitis media | Occasional (present in 5%-29% of cases) |
| Clinodactyly of the 5th finger | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Coxa magna | Occasional (present in 5%-29% of cases) |
| Dyspnea | Occasional (present in 5%-29% of cases) |
| Epicanthus | Occasional (present in 5%-29% of cases) |
| Failure to thrive | Occasional (present in 5%-29% of cases) |
| Gastroesophageal reflux | Occasional (present in 5%-29% of cases) |
| Hearing impairment | Occasional (present in 5%-29% of cases) |
| Highly arched eyebrow | Occasional (present in 5%-29% of cases) |
| Hyperreflexia | Occasional (present in 5%-29% of cases) |
| Hypertelorism | Occasional (present in 5%-29% of cases) |
| Limitation of joint mobility | Occasional (present in 5%-29% of cases) |
| Long eyelashes | Occasional (present in 5%-29% of cases) |
| Malar flattening | Occasional (present in 5%-29% of cases) |
| Muscular |
Occasional (present in 5%-29% of cases) |
| Narrow mouth | Occasional (present in 5%-29% of cases) |
| Patellar hypoplasia | Occasional (present in 5%-29% of cases) |
| Pes planus | Occasional (present in 5%-29% of cases) |
| Protruding ear | Occasional (present in 5%-29% of cases) |
| Sacral dimple | Occasional (present in 5%-29% of cases) |
| Sandal gap | Occasional (present in 5%-29% of cases) |
| Scoliosis | Occasional (present in 5%-29% of cases) |
| Shallow acetabular fossae | Occasional (present in 5%-29% of cases) |
| Shawl scrotum | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Widely spaced teeth | Occasional (present in 5%-29% of cases) |
| Abnormal facial shape | - |
| Aggressive behavior | - |
| Bicuspid aortic valve | - |
| - | |
| Postnatal growth retardation | - |
| Slender finger | - |
| Small for gestational age | - |
| Sporadic | - |
| Talipes equinovarus | - |
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.
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.
Ballif et al. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 2010 Mar 12;86(3):454-61.
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Can you provide me with information about 17q23.1q23.2 microdeletion syndrome? See answer
