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) |
| Arachnodactyly | 90% |
| Cognitive impairment | 90% |
| Long toe | 90% |
| Frontal bossing | 50% |
| Intrauterine growth retardation | 50% |
| Microcephaly | 50% |
| Neurological speech impairment | 50% |
| Patent ductus arteriosus | 50% |
| Pulmonary hypertension | 50% |
| Short stature | 50% |
| Abnormality of epiphysis morphology | 7.5% |
| Abnormality of the eyelashes | 7.5% |
| Abnormality of the hip bone | 7.5% |
| Abnormality of the teeth | 7.5% |
| Atria septal defect | 7.5% |
| Behavioral abnormality | 7.5% |
| Blepharitis | 7.5% |
| Camptodactyly of toe | 7.5% |
| Clinodactyly of the 5th finger | 7.5% |
| Depressed nasal bridge | 7.5% |
| Epicanthus | 7.5% |
| Hearing impairment | 7.5% |
| Highly arched eyebrow | 7.5% |
| Hyperreflexia | 7.5% |
| Hypertelorism | 7.5% |
| Limitation of joint mobility | 7.5% |
| Low-set, posteriorly rotated ears | 7.5% |
| Malar flattening | 7.5% |
| Midline defect of the nose | 7.5% |
| Muscular hypotonia | 7.5% |
| Narrow mouth | 7.5% |
| Otitis media | 7.5% |
| Patellar aplasia | 7.5% |
| Pes planus | 7.5% |
| Respiratory insufficiency | 7.5% |
| Sacral dimple | 7.5% |
| Sandal gap | 7.5% |
| Scoliosis | 7.5% |
| Shawl scrotum | 7.5% |
| Single transverse palmar crease | 7.5% |
| Strabismus | 7.5% |
| Abnormal facial shape | - |
| Aggressive behavior | - |
| Bicuspid aortic valve | - |
| Intellectual disability, mild | - |
| Long fingers | - |
| Postnatal growth retardation | - |
| Slender finger | - |
| Small for gestational age | - |
| Sporadic | - |
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.
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.
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
