Orpha Number: 2273
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 | ||
Alopecia |
Hair loss
|
0001596 |
Ichthyosis | 0008064 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Papule | 0200034 | |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
0001250 | ||
Sparse hair | 0008070 | |
Specific learning disability | 0001328 | |
30%-79% of people have these symptoms | ||
Abnormal eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ]
|
0000499 |
Abnormal nasolacrimal system morphology | 0000614 | |
Absent eyebrow |
Failure of development of eyebrows
|
0002223 |
Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
Eczema | 0000964 | |
Erythema | 0010783 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Heat intolerance |
Intolerance to heat and fevers
|
0002046 |
Hyperconvex fingernails | 0001812 | |
Hyperkeratosis | 0000962 | |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
Hypoplastic fingernail |
Small fingernail
Underdeveloped fingernail
[ more ]
|
0001804 |
Decreased immune function
|
0002721 | |
Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ]
|
0002718 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
Thin eyebrow |
Thin eyebrows
|
0045074 |
Thin fingernail | 0012742 | |
5%-29% of people have these symptoms | ||
Abnormal pelvis bone morphology |
Abnormal shape of pelvis bone
|
0040163 |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
Absent septum pellucidum | 0001331 | |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Agenesis of |
0001274 | |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Blepharitis |
Inflammation of eyelids
|
0000498 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
Cerebral cortical hemiatrophy | 0100308 | |
Cheilitis |
Inflammation of the lips
|
0100825 |
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 | |
Conjunctivitis |
Pink eye
|
0000509 |
Corneal opacity | 0007957 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Ectrodactyly |
Cleft hand
Lobster claw hand
[ more ]
|
0100257 |
Episcleritis |
Inflammation of the thin layer on top of the white part of eye
|
0100534 |
Frontal bossing | 0002007 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Hydronephrosis | 0000126 | |
Hydroureter | 0000072 | |
Inguinal hernia | 0000023 | |
Keratitis |
Corneal inflammation
|
0000491 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Macrotia |
Large ears
|
0000400 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Oligodactyly | 0012165 | |
Omphalocele | 0001539 | |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
Scleritis | 0100532 | |
Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
Subcortical cerebral atrophy | 0012157 | |
Urticaria |
Hives
|
0001025 |
Uveitis | 0000554 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal vertebral morphology | 0003468 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Absent eyelashes |
Failure of development of eyelashes
|
0000561 |
Brain atrophy |
Brain degeneration
Brain wasting
[ more ]
|
0012444 |
Symptoms present at birth
|
0003577 | |
Dry skin | 0000958 | |
Ectodermal dysplasia | 0000968 | |
Erythroderma | 0001019 | |
Follicular hyperkeratosis | 0007502 | |
Global |
0001263 | |
Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Multicystic kidney dysplasia | 0000003 | |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Nail dystrophy |
Poor nail formation
|
0008404 |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Olivopontocerebellar atrophy | 0002542 | |
Opacification of the corneal stroma | 0007759 | |
Recurrent corneal erosions |
Recurrent breakdown of clear protective layer of eye
|
0000495 |
Renal dysplasia | 0000110 | |
Scaling skin |
flaking skin
peeling skin
scaly skin
[ more ]
|
0040189 |
0002650 | ||
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Umbilical hernia | 0001537 | |
Unilateral chest hypoplasia |
Small chest on one side
Underdeveloped chest on one side
[ more ]
|
0005254 |
Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ]
|
0000122 |
0003828 | ||
Ventriculomegaly | 0002119 | |
0001419 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a 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.
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.
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.
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