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 epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Anotia | 0009892 | |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Mandibular aplasia |
Failure of development of lower jaw
Missing lower jaw
[ more ]
|
0009939 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Microtia, third degree | 0011267 | |
Narrow mouth |
Small mouth
|
0000160 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
Slender long bone |
Long bones slender
Thin long bones
[ more ]
|
0003100 |
30%-79% of people have these symptoms | ||
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Aplastic clavicle |
Absent collarbone
|
0006660 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
Clitoral hypoplasia |
Small clitoris
Underdeveloped clit
[ more ]
|
0000060 |
0001363 | ||
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
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 labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ]
|
0000059 |
Hypoplastic labia minora |
Underdeveloped inner lips
|
0000064 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Patellar aplasia |
Absent kneecap
|
0006443 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
Respiratory failure | 0002878 | |
5%-29% of people have these symptoms | ||
Bifid uvula | 0000193 | |
Breast aplasia |
Absent breast
|
0100783 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
Epispadias | 0000039 | |
Global |
0001263 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypospadias | 0000047 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Specific learning disability | 0001328 | |
Submucous cleft hard palate | 0000176 | |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
Absent glenoid fossa | 0006591 | |
Absent sternal ossification | 0006628 | |
Aplasia/Hypoplasia of the patella |
Absent/small kneecap
Absent/underdeveloped kneecap
[ more ]
|
0006498 |
0000007 | ||
Birth length less than 3rd percentile | 0003561 | |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Breast hypoplasia |
Underdeveloped breasts
|
0003187 |
Breech presentation |
Feet or buttocks of fetus positioned near opening of uterus
|
0001623 |
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Cleft palate |
Cleft roof of mouth
|
0000175 |
Coxa valga | 0002673 | |
Cutaneous finger |
Webbed fingers
Webbed skin of fingers
[ more ]
|
0010554 |
Feeding difficulties in infancy | 0008872 | |
Flat glenoid fossa | 0000911 | |
Frontal bossing | 0002007 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
Genu valgum |
Knock knees
|
0002857 |
Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ]
|
0002970 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hyperconvex nail |
Increased nail curvature
Nail overcurvature
[ more ]
|
0001795 |
Incomplete partition of the cochlea type II | 0000376 | |
Joint |
0009473 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Lateral clavicle hook |
Hook-shaped collarbone
|
0000895 |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ]
|
0000527 |
Microdontia |
Decreased width of tooth
|
0000691 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Osteochondritis Dissecans | 0010886 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Shawl scrotum |
Scrotum surrounds penis
|
0000049 |
Short palm | 0004279 | |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Short ribs | 0000773 | |
Small anterior fontanelle | 0000237 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
Small hand |
Disproportionately small hands
|
0200055 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
Thin ribs |
Slender ribs
|
0000883 |
Thin skin | 0000963 |
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.
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.