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 | ||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
Coarse hair |
Coarse hair texture
|
0002208 |
Dry skin | 0000958 | |
Lacrimation abnormality |
Abnormality of tear production
|
0000632 |
Nail dystrophy |
Poor nail formation
|
0008404 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Taurodontia | 0000679 | |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
30%-79% of people have these symptoms | ||
Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ]
|
0008065 |
Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
Keratitis |
Corneal inflammation
|
0000491 |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
Slow-growing hair |
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth
[ more ]
|
0002217 |
Urethral atresia | 0000068 | |
5%-29% of people have these symptoms | ||
Abnormality of the middle ear | 0000370 | |
Aplasia/Hypoplasia of the breasts |
Absent/small breasts
Absent/underdeveloped breasts
[ more ]
|
0010311 |
Aplasia/Hypoplasia of the nipples |
Absent/small nipples
Absent/underdeveloped nipples
[ more ]
|
0006709 |
Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ]
|
0009601 |
Entropion |
Eyelid turned in
|
0000621 |
External ear malformation | 0008572 | |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
Finger |
0006101 | |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
Hypoplasia of the thymus |
Small thymus
|
0000778 |
Hypospadias | 0000047 | |
Mental-retardation
Mental deficiency
Mental retardation
Mental retardation, nonspecific
[ more ]
|
0001249 | |
Lymphoma |
Cancer of lymphatic system
|
0002665 |
Nevus |
Mole
|
0003764 |
Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
Sensorineural hearing impairment | 0000407 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the nasopharynx | 0001739 | |
Absence of Stensen duct | 0000198 | |
Anal atresia |
Absent anus
|
0002023 |
0000006 | ||
Bladder diverticulum | 0000015 | |
Blepharitis |
Inflammation of eyelids
|
0000498 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Blue irides |
Blue eyes
|
0000635 |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Central diabetes insipidus | 0000863 | |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
Cleft roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Dacryocystitis | 0000620 | |
Depressed nasal tip |
Caved in nasal tip
Depressed tip of nose
Flat nasal tip
Flat tip of nose
Flattened nasal tip
Nasal tip, depressed
[ more ]
|
0000437 |
Duplicated collecting system | 0000081 | |
Ectodermal dysplasia | 0000968 | |
Ectrodactyly |
Cleft hand
Lobster claw hand
[ more ]
|
0100257 |
Fair hair |
Blond hair
Fair hair color
Flaxen hair color
Light colored hair
Sandy hair color
Straw colored hair
Towhead (hair color)
[ more ]
|
0002286 |
Generalized hypopigmentation |
Fair skin
Pale pigmentation
[ more ]
|
0007513 |
Growth |
0000824 | |
Hand |
Extra finger
|
0001161 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hydronephrosis | 0000126 | |
Hydroureter | 0000072 | |
Hyperkeratosis | 0000962 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypogonadotropic |
0000044 | |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
Hypoplastic nipples |
Small nipples
|
0002557 |
Inguinal hernia | 0000023 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Megacystis | 0000021 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Microdontia |
Decreased width of tooth
|
0000691 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Nail pits |
Nail pitting
Pitted nails
[ more ]
|
0001803 |
Oligodontia |
Failure of development of more than six teeth
|
0000677 |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
Rectovaginal fistula |
Abnormal connection between rectum and vagina
|
0000143 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
Renal dysplasia | 0000110 | |
Selective tooth agenesis | 0001592 | |
Semilobar holoprosencephaly | 0002507 | |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse axillary hair |
Limited armpit hair
Little underarm hair
[ more ]
|
0002215 |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
Sparse pubic hair |
Decreased sexual hair
|
0002225 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
Split foot |
Lobster-claw foot deformity
Split-foot
[ more ]
|
0001839 |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thin skin | 0000963 | |
Toe syndactyly |
Fused toes
Webbed toes
[ more ]
|
0001770 |
Transverse vaginal septum | 0000145 | |
Ureterocele | 0000070 | |
Urethral stenosis |
Narrowing of the urethra
|
0008661 |
Vesicoureteral reflux | 0000076 | |
Xerostomia |
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ]
|
0000217 |
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 met someone whose mother and brother have this disorder but she does not. Would it be necessary for her to have genetic testing to see if she is a carrier? Is it possible that she could have children without this disorder? See answer