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 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Abnormally ossified vertebrae |
Abnormal bone maturation of vertebra
|
0100569 |
|
Short fingers or toes
|
0001156 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| 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 |
| Frontal bossing | 0002007 | |
| Hypoplastic ischia | 0003175 | |
| Hypoplastic pubic bone | 0003173 | |
| Hypoplastic vertebral bodies |
Underdeveloped back bones
|
0008479 |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Severe |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Squared iliac bones | 0003177 | |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| 30%-79% of people have these symptoms | ||
| Flat occiput | 0005469 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| 5%-29% of people have these symptoms | ||
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
| Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ]
|
0011304 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hypophosphatemia |
Low blood phosphate level
|
0002148 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Renal phosphate wasting | 0000117 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Percent of people who have these symptoms is not available through HPO | ||
| Anterior rib cupping | 0000907 | |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| 0000007 | ||
| Bell-shaped thorax | 0001591 | |
| Disproportionate short-limb short stature |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ]
|
0008873 |
| Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
| Flat acetabular roof | 0003180 | |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Long philtrum | 0000343 | |
| Metaphyseal cupping | 0003021 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Posterior rib cupping | 0000922 | |
| Protuberant abdomen |
Belly sticks out
Extended belly
[ more ]
|
0001538 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| 0002650 | ||
| Severe platyspondyly | 0004565 | |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short palm | 0004279 | |
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.
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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