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 | ||
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
| Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ]
|
0007360 |
| Cachexia |
Wasting syndrome
|
0004326 |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Generalized-onset |
0002197 | |
|
IQ less than 20
|
0002187 | |
| Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
| Macrotia |
Large ears
|
0000400 |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Neuronal loss in |
Loss of brain cells
|
0002529 |
| Severe global |
0011344 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Truncal |
Instability or lack of coordination of central trunk muscles
|
0002078 |
| 30%-79% of people have these symptoms | ||
| Adducted thumb |
Inward turned thumb
|
0001181 |
| Aplasia/Hypoplasia of the |
0007370 | |
| 0000717 | ||
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Conspicuously happy disposition | 0100024 | |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| 0001332 | ||
| Feeding difficulties in infancy | 0008872 | |
| Gait ataxia |
Inability to coordinate movements when walking
|
0002066 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Inappropriate laughter | 0000748 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Mutism |
Inability to speak
Muteness
[ more ]
|
0002300 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
|
0000733 |
| Ventriculomegaly | 0002119 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of the nose |
Nasal abnormality
|
0000366 |
| Arthrogryposis multiplex congenita | 0002804 | |
| Death in early adulthood | 0100613 | |
| Decreased muscle mass | 0003199 | |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the foot |
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ]
|
0001760 |
| Bowel incontinence |
Loss of bowel control
|
0002607 |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
|
0004325 |
| Drooling |
Dribbling
|
0002307 |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global developmental delay | 0001263 | |
| Happy demeanor | 0040082 | |
| Hyperkinetic movements |
Muscle spasms
|
0002487 |
| Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ]
|
0006887 |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
| Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ]
|
0003189 |
| Loss of ability to walk in first decade | 0006794 | |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Photosensitive tonic-clonic seizure | 0007207 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
| Slender finger |
Narrow fingers
Slender fingers
thin fingers
[ more ]
|
0001238 |
| Urinary incontinence |
Loss of bladder control
|
0000020 |
| 0001423 | ||
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 Angelman syndrome, spinocerebellar ataxia type 29 (see these terms) and other X-linked forms of intellectual deficiencies.
Visit the
Orphanet disease page
for more information.
|
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. Submit a new question
How many people have been diagnosed with Christianson syndrome? See answer
