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 | ||
| Absent fingernail | 0001817 | |
| Absent toenail | 0001802 | |
|
Short fingers or toes
|
0001156 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Fingernail dysplasia |
Abnormal fingernail development
|
0100798 |
| Hypoplastic fifth fingernail |
Underdeveloped fifth fingernail
Underdeveloped fingernail of little finger
Underdeveloped fingernail of pinkie finger
Underdeveloped fingernail of pinky finger
[ more ]
|
0008398 |
| Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
| Long philtrum | 0000343 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Short distal phalanx of toe |
Short outermost bone of toe
|
0001857 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Toenail dysplasia |
Abnormal toenail development
|
0100797 |
| 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 |
| 30%-79% of people have these symptoms | ||
| Biparietal narrowing | 0004422 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Frontal bossing | 0002007 | |
| High forehead | 0000348 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
|
0000325 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| 5%-29% of people have these symptoms | ||
| Abnormal mitral valve morphology | 0001633 | |
| Abnormality of the respiratory system | 0002086 | |
| 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 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| High anterior hairline |
High frontal hairline
|
0009890 |
| Inguinal hernia | 0000023 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Symphalangism affecting the phalanges of the hand |
Fused finger bones of the hand
|
0009773 |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Umbilical hernia | 0001537 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Anonychia |
Absent nails
Aplastic nails
[ more ]
|
0001798 |
| 0000006 | ||
| 0010959 | ||
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Short distal phalanx of the 5th finger |
Short outermost little finger bone
Short outermost pinkie finger bone
Short outermost pinky finger bone
[ more ]
|
0004227 |
| Short middle phalanx of the 5th finger |
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger
[ more ]
|
0004220 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
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.
