Mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type IIIC
Mucopolysaccharidosis type IIID
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 | ||
0007009 | ||
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
Coarse hair |
Coarse hair texture
|
0002208 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Mental retardation, progressive
Progressive mental retardation
[ more ]
|
0006887 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
Malabsorption |
Intestinal malabsorption
|
0002024 |
Progressive neurologic deterioration |
Worsening neurological symptoms
|
0002344 |
30%-79% of people have these symptoms | ||
Abnormal clavicle morphology |
Abnormal collarbone
|
0000889 |
Abnormal form of the vertebral bodies | 0003312 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Adenoiditis | 0031458 | |
0001251 | ||
Brain |
0410263 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
Genu valgum |
Knock knees
|
0002857 |
Heparan sulfate excretion in urine | 0002159 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hyperactivity |
More active than typical
|
0000752 |
Intermittent diarrhea | 0002254 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Recurrent sinopulmonary infections |
Recurrent sinus and lung infections
|
0005425 |
Specific learning disability | 0001328 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
Thick hair |
Increased hair density
|
0100874 |
Tonsillitis |
Inflammation of tonsils
|
0011110 |
Vocal cord paresis |
Weakness of the vocal cords
|
0001604 |
5%-29% of people have these symptoms | ||
Abnormal aortic valve morphology | 0001646 | |
Abnormal mitral valve morphology | 0001633 | |
Abnormal myocardium morphology | 0001637 | |
Abnormal pyramidal sign | 0007256 | |
Abnormal temper tantrums | 0025160 | |
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
Abnormality of the middle ear ossicles | 0004452 | |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
Aspiration pneumonia | 0011951 | |
Atrioventricular block |
Interruption of electrical communication between upper and lower chambers of heart
|
0001678 |
Avascular necrosis of the capital femoral epiphysis | 0005743 | |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
Constipation | 0002019 | |
Constrictive median neuropathy | 0012185 | |
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Difficulty articulating speech
|
0001260 | |
Dysostosis multiplex | 0000943 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Fatigable weakness of swallowing muscles | 0030195 | |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Hip dysplasia | 0001385 | |
Hip pain | 0030838 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hyperactive deep tendon reflexes | 0006801 | |
Increased |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ]
|
0002659 |
Inguinal hernia | 0000023 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Low levels of vitamin D |
Deficient in vitamin D
Vitamin D deficiency
[ more ]
|
0100512 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ]
|
0000410 |
Motor delay | 0001270 | |
Obstructive sleep apnea | 0002870 | |
Pigmentary retinopathy | 0000580 | |
Progressive inability to walk | 0002505 | |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ]
|
0001538 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Reduced ejection fraction | 0012664 | |
Rod-cone dystrophy | 0000510 | |
0002650 | ||
0001250 | ||
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Thick nasal alae | 0009928 | |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
Thickened helices | 0000391 | |
Umbilical hernia | 0001537 | |
Upper airway obstruction | 0002781 | |
Ventriculomegaly | 0002119 | |
1%-4% of people have these symptoms | ||
Blindness | 0000618 | |
Constriction of peripheral visual field |
Limited peripheral vision
|
0001133 |
Disinhibition | 0000734 | |
Hyperorality | 0000710 | |
Hypersexuality |
Sex addiction
|
0030214 |
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ]
|
0000662 |
Opacification of the corneal stroma | 0007759 | |
Optic atrophy | 0000648 | |
Retinal degeneration |
Retina degeneration
|
0000546 |
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.
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.
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