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 | ||
11 pairs of ribs | 0000878 | |
Cleft palate |
Cleft roof of mouth
|
0000175 |
Fibular hypoplasia |
Short calf bone
|
0003038 |
Flat face |
Flat facial shape
|
0012368 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Hypoplastic inferior ilia | 0008821 | |
Laryngomalacia |
Softening of voice box tissue
|
0001601 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
Poorly ossified cervical vertebrae | 0008477 | |
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|
0002757 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Scoliosis | 0002650 | |
Short neck |
Decreased length of neck
|
0000470 |
Small abnormally formed scapulae |
Small abnormally formed shoulder blade
|
0006584 |
Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ]
|
0002982 |
Tracheobronchomalacia | 0002786 | |
30%-79% of people have these symptoms | ||
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
Femoral bowing |
Bowed thighbone
|
0002980 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Male pseudohermaphroditism | 0000037 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Skin dimple | 0010781 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
5%-29% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Abnormality of the sense of smell |
Abnormal sense of smell
Smell defect
[ more ]
|
0004408 |
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 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hydronephrosis | 0000126 | |
Hypoplasia of olfactory tract | 0007036 | |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Ventriculomegaly | 0002119 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
|
0001627 |
Absent sternal ossification | 0006628 | |
Anterior tibial bowing | 0006390 | |
Apnea | 0002104 | |
0000006 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
Disproportionate short-limb short stature |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ]
|
0008873 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
High forehead | 0000348 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplastic cervical vertebrae | 0008434 | |
Hypoplastic iliac wing | 0002866 | |
Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
Kyphoscoliosis | 0002751 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Neonatal short-limb short stature |
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth
[ more ]
|
0008921 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
Sex reversal | 0012245 | |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Shortening of all phalanges of fingers |
Shortening of all finger bones
|
0011910 |
Shortening of all phalanges of the toes |
Short toe bones
|
0005035 |
Small face |
Short and narrow face
Small facies
[ more ]
|
0000274 |
Thin ribs |
Slender ribs
|
0000883 |
Thoracic hypoplasia |
Small chest
Small thorax
[ more ]
|
0005257 |
Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
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.
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.