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 | ||
Coarse facial features |
Coarse facial appearance
|
0000280 |
Expressive language delay | 0002474 | |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
Motor delay | 0001270 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ]
|
0001538 |
Restricted chest movement | 0006596 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Thickened skin |
Thick skin
|
0001072 |
Umbilical hernia | 0001537 | |
30%-79% of people have these symptoms | ||
Abnormal mitral valve morphology | 0001633 | |
Abnormality of the thoracic cavity | 0045027 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
0001363 | ||
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 |
Flat face |
Flat facial shape
|
0012368 |
Inability to walk | 0002540 | |
Mitral regurgitation | 0001653 | |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
Obstructive sleep apnea | 0002870 | |
Otitis media |
Middle ear infection
|
0000388 |
Poor speech | 0002465 | |
Pulmonary insufficiency | 0010444 | |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
5%-29% of people have these symptoms | ||
Abnormal aortic valve morphology | 0001646 | |
Abnormality of long bone morphology |
Abnormal shape of long bone
|
0011314 |
Aortic regurgitation | 0001659 | |
Appendicular |
0012389 | |
Disease of the heart muscle
|
0001638 | |
Decreased movement range in interphalangeal joints |
Decreased range of movement range in hinge joints
|
0006203 |
Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
Dry hair | 0011359 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
Enlarged liver and spleen
|
0001433 | |
Hip |
0003273 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Inguinal hernia | 0000023 | |
Knee flexion contracture | 0006380 | |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Left ventricular hypertrophy | 0001712 | |
Limited shoulder movement | 0006467 | |
Limited wrist movement |
Limited movement of the wrist
|
0006248 |
Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Patent foramen ovale | 0001655 | |
Prominent metopic ridge | 0005487 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
Shallow orbits |
Decreased depth of eye sockets
Shallow eye sockets
[ more ]
|
0000586 |
Stridor | 0010307 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Telangiectases of the cheeks | 0007421 | |
Weight loss | 0001824 | |
White hair | 0011364 | |
1%-4% of people have these symptoms | ||
Gastrostomy tube feeding in infancy | 0011471 | |
Respiratory failure requiring assisted ventilation | 0004887 | |
Sensorineural hearing impairment | 0000407 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the rib cage | 0001547 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Atlantoaxial dislocation | 0003414 | |
0000007 | ||
Beaking of vertebral bodies T12-L3 | 0004562 | |
Bullet-shaped phalanges of the hand |
Bullet-shaped hand bones
|
0009769 |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
Carpal bone hypoplasia |
Small carpal bones
Small carpals
[ more ]
|
0001498 |
Cavernous hemangioma |
Collection of dilated blood vessels that forms mass
|
0001048 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Death in childhood | 0003819 | |
Deficiency of N-acetylglucosamine-1-phosphotransferase | 0003264 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Flared iliac wings | 0002869 | |
Flat acetabular roof | 0003180 | |
Global |
0001263 | |
Heart murmur |
Heart murmurs
|
0030148 |
Hepatomegaly |
Enlarged liver
|
0002240 |
High forehead | 0000348 | |
Hypertrophic cardiomyopathy |
Enlarged and thickened heart muscle
|
0001639 |
Hypoplasia of the odontoid process | 0003311 | |
Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
Increased serum beta-hexosaminidase | 0003333 | |
Increased serum iduronate sulfatase level | 0003538 | |
Large sella turcica |
Big sella turcica
|
0002690 |
Long philtrum | 0000343 | |
Lower thoracic interpediculate narrowness | 0008470 | |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Megalocornea |
Enlarged cornea
|
0000485 |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Mucopolysacchariduria | 0008155 | |
Myelopathy | 0002196 | |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Opacification of the corneal stroma | 0007759 | |
Osteopenia | 0000938 | |
Ovoid vertebral bodies | 0003300 | |
Palpebral edema |
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ]
|
0100540 |
Pathologic fracture |
Spontaneous fracture
|
0002756 |
Progressive alveolar ridge hypertropy |
Increasing size of gum ridge
|
0009092 |
Recurrent bronchitis | 0002837 | |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Recurrent pneumonia | 0006532 | |
Severe global developmental delay | 0011344 | |
Severe postnatal growth retardation |
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ]
|
0008850 |
Short long bone |
Long bone shortening
|
0003026 |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
Thoracolumbar kyphoscoliosis | 0003423 | |
Varus deformity of humeral neck | 0006362 | |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
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
|
---|
Differential diagnoses include Hurler syndrome; GM1 gangliosidosis type 1; the infantile form of galactosialidosis; sialidosis type 2; free sialic acid storage disease, infantile form; hypocalcemic rickets; and ML III. Pacman dysplasia (see these terms) is in many instances the prenatal expression of ML II.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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