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 |
|---|---|---|
| 100% of people have these symptoms | ||
| Abnormality of the joint spaces of the elbow | 0003943 | |
|
Short fingers or toes
|
0001156 | |
|
Dislocated hip since birth
|
0001374 | |
| Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
| Humeroradial synostosis |
Fusion of upper and lower arm bones
|
0003041 |
| Hypoplastic ilia | 0000946 | |
| Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Mesomelic leg shortening | 0004987 | |
| Short femur |
Short thighbone
|
0003097 |
| Short neck |
Decreased length of neck
|
0000470 |
| 80%-99% of people have these symptoms | ||
| Abnormality of the skull base | 0002693 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Frontal bossing | 0002007 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Redundant neck skin |
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck
[ more ]
|
0005989 |
| Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
| 4-5 toe syndactyly |
Webbed 4th-5th toes
|
0004692 |
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Absent proximal finger flexion creases | 0006077 | |
| Alveolar ridge overgrowth |
Overgrowth of gum ridge
|
0009085 |
| Ambiguous genitalia, female |
Atypical appearance of female genitals
|
0000061 |
| Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
| Anterior rounding of vertebral bodies | 0008488 | |
| 0000007 | ||
| Bell-shaped thorax | 0001591 | |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
|
Cleft roof of mouth
|
0000175 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Dislocated radial head | 0003083 | |
| Facial hirsutism | 0009937 | |
| Fibular aplasia |
Absent calf bone
|
0002990 |
| Hydranencephaly | 0002324 | |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hydronephrosis | 0000126 | |
| Hypoplastic iliac wing | 0002866 | |
| Hypoplastic ischia | 0003175 | |
| Hypoplastic pubic bone | 0003173 | |
| Joint contracture of the hand | 0009473 | |
| Long clavicles |
Long collarbone
|
0000890 |
| Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
| Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
| Microglossia |
Abnormally small tongue
Underdevelopment of the tongue
[ more ]
|
0000171 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Microtia, first degree | 0011266 | |
| Prominent protruding coccyx |
Prominent protruding tailbone
|
0008472 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Toe syndactyly |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| Wrist flexion contracture | 0001239 | |
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.
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 would like information on Cousin syndrome so that I may have an understanding what it is and how to help my friend when needed as I haven't found any helpful information on the internet for this condition.
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