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 | ||
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Cleft palate |
Cleft roof of mouth
|
0000175 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Specific learning disability | 0001328 | |
30%-79% of people have these symptoms | ||
Iris coloboma |
Cat eye
|
0000612 |
Muscular |
Low or weak muscle tone
|
0001252 |
Drooping upper eyelid
|
0000508 | |
5%-29% of people have these symptoms | ||
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Finger |
0006101 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hypospadias | 0000047 | |
Macrotia |
Large ears
|
0000400 |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
Seizure | 0001250 | |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
Ventriculomegaly | 0002119 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Bulbous nose | 0000414 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Symptoms present at birth
|
0003577 | |
Corneal erosion |
Damage to outer layer of the cornea of the eye
|
0200020 |
Corneal ulceration | 0012804 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Global |
0001263 | |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
Hypoplasia of the brainstem |
Small brainstem
Underdeveloped brainstem
[ more ]
|
0002365 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Megalocornea |
Enlarged cornea
|
0000485 |
Polymicrogyria |
More grooves in brain
|
0002126 |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
Short neck |
Decreased length of neck
|
0000470 |
Short philtrum | 0000322 | |
Small hand |
Disproportionately small hands
|
0200055 |
Sparse hair | 0008070 | |
Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
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
|
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Main differential diagnoses include Mowat-Wilson (MWS) and Baraitser-Winter syndromes. Different facial characteristics (thick, horizontal eyebrows and uplifted earlobes with a central depression), presence of seizures and hypospadias, and absence of polymicrogyria and oligodontia distinguish MWS. Key overlapping features with Baraitser-Winter syndrome include intellectual disability, microcephaly, congenital ptosis, high-arched eyebrows, ocular coloboma and short stature; however, Hirschsprung disease, congenital heart defects, and urogenital malformations have not been reported in this syndrome.
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.