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) |
| Decreased antibody level in blood | 90% |
| Recurrent respiratory infections | 90% |
| Short stature | 90% |
| Abnormality of neutrophils | 50% |
| Anemia | 50% |
| Cellular immunodeficiency | 50% |
| Cognitive impairment | 50% |
| Communicating hydrocephalus | 50% |
| Depressed nasal bridge | 50% |
| Lymphopenia | 50% |
| Macrocephaly | 50% |
| Malabsorption | 50% |
| Abnormality of the tongue | 7.5% |
| Epicanthus | 7.5% |
| Hypertelorism | 7.5% |
| Low-set, posteriorly rotated ears | 7.5% |
| Malar flattening | 7.5% |
| Umbilical hernia | 7.5% |
| Anteverted nares | - |
| Autosomal recessive inheritance | - |
| Bronchiectasis | - |
| Chronic bronchitis | - |
| Diarrhea | - |
| Failure to thrive | - |
| Flat face | - |
| Immunodeficiency | - |
| Intellectual disability | - |
| Low-set ears | - |
| Macroglossia | - |
| Pneumonia | - |
| Protruding tongue | - |
| Sinusitis | - |
| T lymphocytopenia | - |
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 ICF syndrome. If you have a question about any of these diseases, you can contact GARD.
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