Orpha Number: 163654
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 |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormal metatarsal morphology |
Abnormality of the long bone of foot
|
0001832 |
| Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
| Abnormality of the chin | 0000306 | |
| Abnormality of the voice |
Voice abnormality
|
0001608 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
|
Short fingers or toes
|
0001156 | |
| Broad long bones |
Wide long bones
Widened long bones
[ more ]
|
0005622 |
| Broad neck |
Increased width of neck
Wide neck
[ more ]
|
0000475 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Cubitus valgus |
Outward turned elbows
|
0002967 |
| Cuboid-shaped vertebral bodies | 0004634 | |
| Curly eyelashes | 0007665 | |
| Curly hair | 0002212 | |
| 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 |
| Enlarged thorax |
Wide rib cage
|
0100625 |
| Facial hirsutism | 0009937 | |
| Hypoplastic pelvis | 0008839 | |
| Limited pronation/supination of forearm | 0006394 | |
| Long philtrum | 0000343 | |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Multiple rows of eyelashes |
Extra rows of eyelashes
|
0008496 |
| Nail dysplasia | 0002164 | |
| Narrow philtrum | 0011829 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Rhizo-meso-acromelic limb shortening | 0005069 | |
| Short long bone |
Long bone shortening
|
0003026 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short thorax | 0010306 | |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ]
|
0000215 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| Percent of people who have these symptoms is not available through HPO | ||
| Anterior scalloping of vertebral bodies | 0004580 | |
| 0000006 | ||
| Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ]
|
0001498 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Delayed epiphyseal ossification | 0002663 | |
| Flexion |
0001371 | |
| High pitched voice | 0001620 | |
| Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
| Hypoplastic iliac wing | 0002866 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Restrictive ventilatory defect | 0002091 | |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short palm | 0004279 | |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
| Single interphalangeal crease of fifth finger | 0006216 | |
| Small epiphyses |
Small end part of bone
|
0010585 |
| Spondyloepiphyseal dysplasia | 0002655 | |
| Tapered metacarpals |
Tapered long bones of hand
|
0006108 |
| Tapered phalanx of finger |
Tapered finger bone
|
0006192 |
| Thoracic hypoplasia |
Small chest
Small thorax
[ more ]
|
0005257 |
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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