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 | ||
| Calcification of cartilage | 0100593 | |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Pulmonary artery stenosis |
Narrowing of lung artery
|
0004415 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Tracheal atresia | 0100682 | |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
| 30%-79% of people have these symptoms | ||
| Global |
0001263 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
| Recurrent sinusitis | 0011108 | |
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| 5%-29% of people have these symptoms | ||
| Alopecia |
Hair loss
|
0001596 |
| Dermal atrophy |
Skin degeneration
|
0004334 |
| Optic atrophy | 0000648 | |
| 0001250 | ||
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Soft, doughy skin | 0001027 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Calcification of the auricular cartilage | 0005103 | |
| Cartilaginous ossification of larynx | 0008747 | |
| Cartilaginous ossification of nose | 0005275 | |
| Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
| Chronic sinusitis | 0011109 | |
| Costal cartilage calcification | 0006646 | |
| Deep philtrum | 0002002 | |
| Emphysema | 0002097 | |
| Epiphyseal stippling |
Speckled calcifications in end part of bone
|
0010655 |
| Growth abnormality |
Abnormal growth
Growth issue
[ more ]
|
0001507 |
| Hypertension | 0000822 | |
| Macrotia |
Large ears
|
0000400 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Nasal speech |
Nasal voice
|
0001611 |
| Peripheral pulmonary artery stenosis |
Narrowing of peripheral lung artery
|
0004969 |
| Premature fusion of phalangeal epiphyses |
Premature fusion of end part of digital bone
|
0006140 |
| Pulmonary artery hypoplasia |
Underdeveloped lung artery
|
0004971 |
| Pulmonary obstruction |
Obstructive lung disease
|
0006536 |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| Recurrent bronchitis | 0002837 | |
| Short hallux |
Short big toe
|
0010109 |
| Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
| Sinusitis |
Sinus inflammation
|
0000246 |
| Spontaneous abortion | 0005268 | |
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The principle differential diagnosis is X-linked recessive chondrodysplasia punctata, but abnormal calcification has also been observed in children with warfarin embryopathy (see this term) and in those with combined vitamin K-dependent coagulation factor deficiency.
Visit the
Orphanet disease page
for more information.
|
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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