This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Anosmia |
Lost smell
|
0000458 |
Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ]
|
0009906 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
External ear malformation | 0008572 | |
Feeding difficulties in infancy | 0008872 | |
Global |
0001263 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hypogonadotrophic |
0000044 | |
Hypoplasia of the semicircular canal | 0011382 | |
Iris coloboma |
Cat eye
|
0000612 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Overfolded helix |
Overfolded ears
|
0000396 |
30%-79% of people have these symptoms | ||
Abnormal aortic valve morphology | 0001646 | |
Abnormal cardiac septum morphology | 0001671 | |
Abnormality of female internal genitalia | 0000008 | |
Abnormality of the soft palate | 0100736 | |
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ]
|
0000528 |
Anterior hypopituitarism | 0000830 | |
Aortic arch aneurysm | 0005113 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
0000717 | ||
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
Chorioretinal coloboma | 0000567 | |
0000175 | ||
Cleft upper lip |
Harelip
|
0000204 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
Dimple chin |
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ]
|
0010751 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
Facial palsy |
Bell's palsy
|
0010628 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Interrupted aortic arch | 0011611 | |
Labial hypoplasia |
Underdeveloped labia
|
0000066 |
Low-set, posteriorly rotated ears | 0000368 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
Narrow mouth |
Small mouth
|
0000160 |
0000639 | ||
Obsessive-compulsive behavior |
Obsessive compulsive behavior
|
0000722 |
Optic atrophy | 0000648 | |
Patent ductus arteriosus | 0001643 | |
Polyhydramnios | 0001561 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Drooping upper eyelid
|
0000508 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Tetralogy of Fallot | 0001636 | |
5%-29% of people have these symptoms | ||
Abnormality of bone mineral density | 0004348 | |
Abnormality of |
0010978 | |
Abnormality of the adrenal glands |
Adrenal abnormalities
|
0000834 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Abnormality of tibia morphology |
Abnormality of the shankbone
Abnormality of the shinbone
[ more ]
|
0002992 |
Abnormality of vision |
Abnormality of sight
Vision issue
[ more ]
|
0000504 |
Absent radius | 0003974 | |
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ]
|
0007360 |
Aqueductal stenosis | 0002410 | |
Bifid femur |
Notched thighbone
Split thighbone
[ more ]
|
0010443 |
0001156 | ||
Clinodactyly of the 5th finger | 0004209 | |
Dandy-Walker malformation | 0001305 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ]
|
0000625 |
Hand monodactyly | 0004058 | |
Hemivertebrae | 0002937 | |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
Holoprosencephaly | 0001360 | |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Hydronephrosis | 0000126 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypoplasia of the ulna | 0003022 | |
Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
|
0010669 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Lacrimation abnormality |
Abnormality of tear production
|
0000632 |
Laryngomalacia | 0001601 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Preauricular skin tag | 0000384 | |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Abnormal curving of the spine
|
0002650 | |
Talipes | 0001883 | |
Tracheoesophageal fistula | 0002575 | |
Vesicoureteral reflux | 0000076 | |
1%-4% of people have these symptoms | ||
Abnormal nipple morphology |
Abnormality of the nipple
|
0004404 |
Abnormal palmar dermatoglyphics | 0001018 | |
Anal atresia | 0002023 | |
Anal stenosis |
Narrowing of anal opening
|
0002025 |
Arrhinencephaly | 0002139 | |
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ]
|
0000378 |
Down-sloping shoulders |
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ]
|
0200021 |
Growth |
0000824 | |
Hand |
Extra finger
|
0001161 |
Lop ear | 0000394 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ]
|
0000410 |
Omphalocele | 0001539 | |
Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
Retinal coloboma | 0000480 | |
Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
Webbed neck |
Neck webbing
|
0000465 |
Percent of people who have these symptoms is not available through HPO | ||
Aplasia/Hypoplasia of the thymus |
Absent/small thymus
Absent/underdeveloped thymus
[ more ]
|
0010515 |
Atrial septal defect | 0001631 | |
0000006 | ||
Coloboma |
Notched pupil
|
0000589 |
Double outlet right ventricle | 0001719 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Duodenal atresia | 0002247 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Esophageal atresia | 0002032 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Gonadotropin deficiency | 0008213 | |
Hypocalcemia |
Low blood calcium levels
|
0002901 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ]
|
0001888 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Parathyroid hypoplasia |
Small parathyroid glands
Underdeveloped parathyroid glands
[ more ]
|
0000860 |
Posterior choanal atresia | 0004496 | |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Sporadic | 0003745 | |
Square face |
Square facial shape
|
0000321 |
Umbilical hernia | 0001537 | |
Ventricular septal defect | 0001629 |
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
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