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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| Absent tibia |
Absent shankbone
Absent shinbone
[ more ]
|
0009556 |
| Antecubital pterygium | 0009760 | |
| Aplasia cutis congenita of scalp | 0007385 | |
| Aplasia/hypoplasia of the femur |
Absent/small thighbone
Absent/underdeveloped thighbone
[ more ]
|
0005613 |
| Aplasia/Hypoplasia of the hallux |
Absent/small big toe
Absent/underdeveloped big toe
[ more ]
|
0008362 |
| Aplasia/hypoplasia of the humerus |
Absent/small long bone in upper arm
Absent/underdeveloped long bone in upper arm
[ more ]
|
0006507 |
| Aplasia/Hypoplasia of the nails |
Absent/small nails
Absent/underdeveloped nails
[ more ]
|
0008386 |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| 0000006 | ||
| Bifid scrotum |
Cleft of scrotum
|
0000048 |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
|
Short fingers or toes
|
0001156 | |
| Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
| Clitoral hypoplasia |
Small clitoris
Underdeveloped clit
[ more ]
|
0000060 |
| 0001363 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ]
|
0000378 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Dislocated radial head | 0003083 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Fibular hypoplasia |
Short calf bone
|
0003038 |
| Flared iliac wings | 0002869 | |
| Global |
0001263 | |
| Hand monodactyly | 0004058 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
| Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
| Hypoplastic iliac wing | 0002866 | |
| Hypoplastic ischia | 0003175 | |
| Hypoplastic pubic rami | 0008830 | |
| Hypospadias | 0000047 | |
| Inguinal hernia | 0000023 | |
| Knee flexion |
0006380 | |
| Mesomelic leg shortening | 0004987 | |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
|
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 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Overfolded helix |
Overfolded ears
|
0000396 |
| Parietal foramina | 0002697 | |
| Patellar hypoplasia |
Small kneecap
Underdeveloped kneecap
[ more ]
|
0003065 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Popliteal pterygium | 0009756 | |
| Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
| Preauricular skin tag | 0000384 | |
| Preaxial foot polydactyly | 0001841 | |
| Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
|
Drooping upper eyelid
|
0000508 | |
| Shallow acetabular fossae | 0003182 | |
| Short clavicles |
Short collarbone
|
0000894 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short metatarsal |
Short long bone of foot
|
0010743 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
| Skin dimple | 0010781 | |
| 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 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| Toe |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| Torticollis |
Wry neck
|
0000473 |
| Total anomalous pulmonary venous return | 0005160 | |
| Undulate ribs |
Wavy ribs
|
0010561 |
| U-Shaped upper lip vermilion |
Carp-like mouth
Carp-shaped mouth
Fish mouth
Large, carp-shaped mouth
Wide, carp-shaped mouth
[ more ]
|
0010806 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
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.
