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 | ||
Abnormality of the voice |
Voice abnormality
|
0001608 |
Facial palsy |
Bell's palsy
|
0010628 |
Feeding difficulties in infancy | 0008872 | |
Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ]
|
0000298 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Drooping upper eyelid
|
0000508 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
30%-79% of people have these symptoms | ||
Aplasia of the pectoralis major muscle | 0009751 | |
Short fingers or toes
|
0001156 | |
Corneal opacity | 0007957 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
Motor delay | 0001270 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
5%-29% of people have these symptoms | ||
Abnormality of the sense of smell |
Abnormal sense of smell
Smell defect
[ more ]
|
0004408 |
Abnormality of the ulna | 0002997 | |
Absent hand | 0004050 | |
Aplasia/Hypoplasia involving the metacarpal bones |
Absent/small long bones of hand
Absent/underdeveloped long bones of hand
[ more ]
|
0005914 |
Aplasia/Hypoplasia of the radius | 0006501 | |
Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ]
|
0009601 |
Aplasia/Hypoplasia of the tongue | 0010295 | |
Arthrogryposis multiplex congenita | 0002804 | |
0000717 | ||
Blepharitis |
Inflammation of eyelids
|
0000498 |
Breast aplasia |
Absent breast
|
0100783 |
Cleft roof of mouth
|
0000175 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Death in infancy |
Infantile death
Lethal in infancy
[ more ]
|
0001522 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Finger |
0006101 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hypogonadotropic |
0000044 | |
Microdontia |
Decreased width of tooth
|
0000691 |
Small jaw
Little lower jaw
Small lower jaw
[ more ]
|
0000347 | |
Multiple cafe-au-lait spots | 0007565 | |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
1%-4% of people have these symptoms | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
Bifid uvula | 0000193 | |
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 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
Abnormality of the nail | 0001597 | |
Abnormality of the nasopharynx | 0001739 | |
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
Abnormality of the posterior cranial fossa | 0000932 | |
0000006 | ||
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Clumsiness | 0002312 | |
0001491 | ||
Cranial nerve VI palsy | 0006897 | |
Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
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 |
Difficulty articulating speech
|
0001260 | |
Dysdiadochokinesis |
Difficulty performing quick and alternating movements
|
0002075 |
Esotropia |
Inward turning cross eyed
|
0000565 |
Exotropia |
Outward facing eye ball
|
0000577 |
Facial diplegia | 0001349 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ]
|
0002365 |
Infantile muscular hypotonia |
Decreased muscle tone in infant
|
0008947 |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
Lower limb undergrowth |
Underdeveloped lower limb bones
|
0009816 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
0009830 | ||
Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
Poor coordination | 0002370 | |
Radial deviation of finger | 0009466 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
Short neck |
Decreased length of neck
|
0000470 |
Short phalanx of finger |
Short finger bones
|
0009803 |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
Sporadic |
No previous family history
|
0003745 |
Syndactyly |
Webbed fingers or toes
|
0001159 |
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.
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
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