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) |
| Intellectual disability | 100% |
| Abnormality of the antihelix | 90% |
| Abnormality of the aorta | 90% |
| Abnormality of the inner ear | 90% |
| Aplasia/Hypoplasia of the earlobes | 90% |
| Chorioretinal coloboma | 90% |
| Cupped ear | 90% |
| External ear malformation | 90% |
| Facial palsy | 90% |
| Feeding difficulties in infancy | 90% |
| Hearing impairment | 90% |
| Hypoplasia of the ear cartilage | 90% |
| Incoordination | 90% |
| Iris coloboma | 90% |
| Lop ear | 90% |
| Macrotia | 90% |
| Microtia | 90% |
| Mixed hearing impairment | 90% |
| Muscular hypotonia | 90% |
| Optic atrophy | 90% |
| Optic nerve coloboma | 90% |
| Overfolded helix | 90% |
| Patent ductus arteriosus | 90% |
| Respiratory insufficiency | 90% |
| Short stature | 90% |
| Tetralogy of Fallot | 90% |
| Ventricular septal defect | 90% |
| Visual impairment | 90% |
| Anophthalmia | 85% |
| Retinal coloboma | 85% |
| Abnormality of female external genitalia | 50% |
| Abnormality of the palpebral fissures | 50% |
| Abnormality of the sense of smell | 50% |
| Abnormality of the soft palate | 50% |
| Anterior hypopituitarism | 50% |
| Attention deficit hyperactivity disorder | 50% |
| Autism | 50% |
| Bifid scrotum | 50% |
| Broad columella | 50% |
| Chin dimple | 50% |
| Choanal atresia | 50% |
| Cognitive impairment | 50% |
| Cryptorchidism | 50% |
| Delayed eruption of teeth | 50% |
| Facial asymmetry | 50% |
| Glaucoma | 50% |
| Hypoplasia of penis | 50% |
| Low-set, posteriorly rotated ears | 50% |
| Narrow face | 50% |
| Narrow mouth | 50% |
| Neurological speech impairment | 50% |
| Nystagmus | 50% |
| Otitis media | 50% |
| Polyhydramnios | 50% |
| Retinal detachment | 50% |
| Retinopathy | 50% |
| Scoliosis | 50% |
| Sinusitis | 50% |
| Strabismus | 50% |
| Arrhinencephaly | 25% |
| Hypogonadotrophic hypogonadism | 25% |
| Abnormal localization of kidney | 7.5% |
| Abnormal palmar dermatoglyphics | 7.5% |
| Abnormality of dental enamel | 7.5% |
| Abnormality of female internal genitalia | 7.5% |
| Abnormality of the adrenal glands | 7.5% |
| Abnormality of the femur | 7.5% |
| Abnormality of the fingernails | 7.5% |
| Abnormality of the hip bone | 7.5% |
| Abnormality of the nipple | 7.5% |
| Abnormality of the ribs | 7.5% |
| Abnormality of the shoulder | 7.5% |
| Abnormality of the tibia | 7.5% |
| Anal atresia | 7.5% |
| Anal stenosis | 7.5% |
| Aplasia/Hypoplasia of the cerebellum | 7.5% |
| Aplasia/Hypoplasia of the corpus callosum | 7.5% |
| Aqueductal stenosis | 7.5% |
| Brachydactyly syndrome | 7.5% |
| Cellular immunodeficiency | 7.5% |
| Cleft eyelid | 7.5% |
| Cleft upper lip | 7.5% |
| Clinodactyly of the 5th finger | 7.5% |
| Dandy-Walker malformation | 7.5% |
| Deep palmar crease | 7.5% |
| Dental malocclusion | 7.5% |
| Down-sloping shoulders | 7.5% |
| Epicanthus | 7.5% |
| Growth hormone deficiency | 7.5% |
| Hand polydactyly | 7.5% |
| Hemivertebrae | 7.5% |
| Highly arched eyebrow | 7.5% |
| Holoprosencephaly | 7.5% |
| Hypertelorism | 7.5% |
| Hypoplasia of the zygomatic bone | 7.5% |
| Increased bone mineral density | 7.5% |
| Intrauterine growth retardation | 7.5% |
| Joint hypermobility | 7.5% |
| Lacrimation abnormality | 7.5% |
| Laryngomalacia | 7.5% |
| Microcephaly | 7.5% |
| Obsessive-compulsive behavior | 7.5% |
| Omphalocele | 7.5% |
| Oral cleft | 7.5% |
| Preauricular skin tag | 7.5% |
| Preaxial hand polydactyly | 7.5% |
| Ptosis | 7.5% |
| Reduced number of teeth | 7.5% |
| Renal agenesis | 7.5% |
| Renal hypoplasia | 7.5% |
| Self-injurious behavior | 7.5% |
| Short thumb | 7.5% |
| Split hand | 7.5% |
| Talipes | 7.5% |
| Tibial deviation of toes | 7.5% |
| Tracheoesophageal fistula | 7.5% |
| Triphalangeal thumb | 7.5% |
| Umbilical hernia | 7.5% |
| Vertebral segmentation defect | 7.5% |
| Vesicoureteral reflux | 7.5% |
| Webbed neck | 7.5% |
| Absent radius | 5% |
| Bifid femur | 5% |
| Hand monodactyly | 5% |
| Hypoplasia of the ulna | 5% |
| Anosmia | - |
| Aplasia/Hypoplasia of the thymus | - |
| Atria septal defect | - |
| Autosomal dominant inheritance | - |
| Delayed puberty | - |
| Double outlet right ventricle | - |
| Duodenal atresia | - |
| Dysphagia | - |
| Esophageal atresia | - |
| Feeding difficulties | - |
| Gonadotropin deficiency | - |
| Horseshoe kidney | - |
| Hydronephrosis | - |
| Hypocalcemia | - |
| Hypothyroidism | - |
| Labial hypoplasia | - |
| Lymphopenia | - |
| Malar flattening | - |
| Micropenis | - |
| Microphthalmia | - |
| Parathyroid hypoplasia | - |
| Phenotypic variability | - |
| Posterior choanal atresia | - |
| Postnatal growth retardation | - |
| Pulmonic stenosis | - |
| Sporadic | - |
| Square face | - |
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.
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion
Thursday, May 28, 2009 -
Saturday, May 30, 2009
Location: Hilton Anatole,
Dallas,
TX
Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.
Contact: Dr. Frank Evans, NHLBI301-402-2647
Co-funding Institute(s): National Heart, Lung, and Blood Institute
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I have a son with CHARGE syndrome and would like to know if he inherited it from a parent or if it's random. Are we carriers of the syndrome, and could it happen again? Can any of my healthy kids also be a carrier causing one of them to have children with the syndrome? See answer
