Orpha Number: 93317
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 ribs |
Rib abnormalities
|
0000772 |
| Abnormality of the scapula |
Abnormality of the shoulder blade
|
0000782 |
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
| Atrioventricular block | 0001678 | |
| Cardiorespiratory arrest | 0006543 | |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Iliac crest serration | 0008786 | |
| Long fibula |
Long calf bone
|
0003085 |
| Metaphyseal chondrodysplasia | 0005871 | |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Rhizomelic arm shortening | 0004991 | |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short palm | 0004279 | |
| Spondylometaphyseal dysplasia | 0002657 | |
| 30%-79% of people have these symptoms | ||
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Turricephaly |
Tall shaped skull
Tower skull shape
[ more ]
|
0000262 |
| 5%-29% of people have these symptoms | ||
| Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ]
|
0005616 |
| Agenesis of |
0001274 | |
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
| Myocarditis | 0012819 | |
| Pachygyria | 0001302 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 11 pairs of ribs | 0000878 | |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
|
0001631 |
| 0000007 | ||
|
Short fingers or toes
|
0001156 | |
| Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
| Cone-shaped metacarpal epiphyses |
Cone-shaped end part of long bone
|
0006059 |
| Cupped ribs |
Rib cupping
|
0000887 |
| Delayed epiphyseal ossification | 0002663 | |
| 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 |
| Flared iliac wings | 0002869 | |
| Flat acetabular roof | 0003180 | |
| Focal lissencephaly | 0007187 | |
| Horizontal inferior border of scapula | 0031233 | |
| Irregular tarsal bones |
Abnormal shape of ankle bones
|
0004688 |
| Large posterior fontanelle | 0004491 | |
| Metaphyseal cupping | 0003021 | |
| Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
| Narrow greater sacrosciatic notches | 0003375 | |
| Porencephalic cyst | 0002132 | |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
| Rhizomelia | 0008905 | |
| Short finger |
Stubby finger
Stubby fingers
[ more ]
|
0009381 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Short ribs | 0000773 | |
| Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Widened sacrosciatic notch | 0008798 | |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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