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 | ||
Abnormal autonomic nervous system physiology | 0012332 | |
Abnormality of vision |
Abnormality of sight
Vision issue
[ more ]
|
0000504 |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Feeding difficulties in infancy | 0008872 | |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ]
|
0000975 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Paresthesia |
Pins and needles feeling
Tingling
[ more ]
|
0003401 |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ]
|
0001954 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Skeletal dysplasia | 0002652 | |
Thickened cortex of long bones | 0000935 | |
30%-79% of people have these symptoms | ||
Apnea | 0002104 | |
Asthma | 0002099 | |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
Genu valgum |
Knock knees
|
0002857 |
Impaired pain sensation |
Decreased pain sensation
|
0007328 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Knee flexion contracture | 0006380 | |
Lacrimation abnormality |
Abnormality of tear production
|
0000632 |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Osteopenia | 0000938 | |
0000939 | ||
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|
0002757 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
0002650 | ||
Smooth tongue |
Smooth surface of tongue
|
0010298 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Trismus |
Lockjaw
|
0000211 |
5%-29% of people have these symptoms | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
Absent patellar reflexes |
Absent knee jerk reflex
|
0006844 |
Decreased corneal reflex | 0008000 | |
Ectopic thyroid |
Abnormal thryoid location
|
0100028 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Muscular |
Low or weak muscle tone
|
0001252 |
Sacral dimple |
Spinal dimple
|
0000960 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal metaphyseal trabeculation | 0005089 | |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
Adducted thumb |
Inward turned thumb
|
0001181 |
0000007 | ||
Blotching pigmentation of the skin | 0007610 | |
Broad ischia | 0100865 | |
Contracture of the proximal interphalangeal joint of the 5th finger | 0009185 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Enlarged joints | 0003037 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Femoral bowing |
Bowed thighbone
|
0002980 |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Flexion contracture of toe | 0005830 | |
Frontal bossing | 0002007 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
Hypoplastic iliac body | 0008824 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Metaphyseal rarefaction | 0004980 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Myotonia | 0002486 | |
Nasal speech |
Nasal voice
|
0001611 |
Opacification of the corneal stroma | 0007759 | |
Pathologic fracture |
Spontaneous fracture
|
0002756 |
Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Pulmonary arterial medial hypertrophy | 0004964 | |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
Pursed lips |
Tightly closed lips
|
0000205 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Short neck |
Decreased length of neck
|
0000470 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Short phalanx of finger |
Short finger bones
|
0009803 |
Short tibia |
Short shinbone
Short skankbone
[ more ]
|
0005736 |
Single transverse palmar crease | 0000954 | |
Square face |
Square facial shape
|
0000321 |
Talipes | 0001883 | |
Talipes valgus | 0004684 | |
Thin ribs |
Slender ribs
|
0000883 |
Thin skin | 0000963 | |
Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ]
|
0002982 |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
Wide nasal base |
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose
[ more ]
|
0012810 |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
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Differential diagnosis includes Crisponi syndrome (cold-induced sweating syndrome) and other skeletal dysplasias, such as Ehlers-Danlos syndrome type IX, Campomelic dysplasia and autosomal dominant Larsen syndrome (see these terms).
Visit the
Orphanet disease page
for more information.
|
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.