Orpha Number: 50945
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 |
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ]
|
0005616 |
Aplastic clavicle |
Absent collarbone
|
0006660 |
Broad clavicles |
Broad collarbone
|
0000916 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
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 |
Distal shortening of limbs |
Short outer part of limbs
|
0006402 |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Increased bone mineral density |
Increased bone density
|
0011001 |
Lethal skeletal dysplasia |
Lethal dwarfism identifiable at birth
|
0005716 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
Metaphyseal cupping | 0003021 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
Neonatal short-limb |
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ]
|
0008921 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ]
|
0001538 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Short ribs | 0000773 | |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
30%-79% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
Hydrops fetalis | 0001789 | |
Long philtrum | 0000343 | |
Natal tooth |
Born with teeth
Teeth present at birth
[ more ]
|
0000695 |
Protruding tongue |
Prominent tongue
Tongue sticking out of mouth
[ more ]
|
0010808 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Synostosis of joints |
Fusion of joints
|
0100240 |
5%-29% of people have these symptoms | ||
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
Percent of people who have these symptoms is not available through HPO | ||
Advanced ossification of carpal bones | 0004233 | |
Advanced tarsal ossification | 0008108 | |
0000007 | ||
Generalized osteosclerosis | 0005789 | |
Laryngeal calcification | 0008754 | |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Squared iliac bones | 0003177 | |
Stillbirth |
Stillborn
|
0003826 |
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.
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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