Orpha Number: 166272
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 the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
| Dentinogenesis imperfecta | 0000703 | |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Short palm | 0004279 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 30%-79% of people have these symptoms | ||
| Coxa valga | 0002673 | |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
|
Abnormal curving of the spine
|
0002650 | |
| Square pelvis bone | 0003278 | |
| 5%-29% of people have these symptoms | ||
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
| 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 | |
| Patent ductus arteriosus | 0001643 | |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| 1%-4% of people have these symptoms | ||
|
Short fingers or toes
|
0001156 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Nephronophthisis | 0000090 | |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Spondylometaphyseal dysplasia | 0002657 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| 0000007 | ||
| Biconvex vertebral bodies | 0004625 | |
| Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
| Coronal cleft vertebrae | 0003417 | |
| Delayed ossification of carpal bones | 0001216 | |
| Flared iliac wings | 0002869 | |
| Flat acetabular roof | 0003180 | |
| Genu recurvatum |
Back knee
Knee hyperextension
[ more ]
|
0002816 |
| Genu varum |
Outward bow-leggedness
Outward bowing at knees
[ more ]
|
0002970 |
| Irregular epiphyses |
Irregular end part of long bone
|
0010582 |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
| Long philtrum | 0000343 | |
| Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
| Mesomelic short stature | 0008845 | |
| Metaphyseal cupping | 0003021 | |
| Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
| Motor delay | 0001270 | |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| 0000939 | ||
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Polycystic kidney dysplasia | 0000113 | |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Relative macrocephaly |
Relatively large head
|
0004482 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Small epiphyses |
Small end part of bone
|
0010585 |
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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