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 | ||
| Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Corneal opacity | 0007957 | |
| Dandy-Walker malformation | 0001305 | |
| Epicanthus |
Prominent eye folds
Eye folds
[ more ]
|
0000286 |
| 0000501 | ||
| Increased nuchal translucency | 0010880 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Muscular dystrophy | 0003560 | |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| 30%-79% of people have these symptoms | ||
| Abnormality of vision |
Abnormality of sight
Vision issue
[ more ]
|
0000504 |
| Global |
0001263 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
|
0000325 |
| 5%-29% of people have these symptoms | ||
| Abnormal lung lobation | 0002101 | |
| Abnormality of |
0010978 | |
| Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
|
0001000 |
| Acute lymphoblastic leukemia | 0006721 | |
| Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
| Aortic regurgitation | 0001659 | |
| Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ]
|
0007360 |
| Aplasia/Hypoplasia of the |
0007370 | |
| Apnea | 0002104 | |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
|
Cleft roof of mouth
|
0000175 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
| Colon |
0003003 | |
| Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Duodenal atresia |
Absence or narrowing of first part of small bowel
|
0002247 |
| Frontal bossing | 0002007 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| High forehead | 0000348 | |
| Holoprosencephaly | 0001360 | |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| Intestinal polyposis | 0200008 | |
| Low-set, posteriorly rotated ears | 0000368 | |
| Multicystic kidney dysplasia | 0000003 | |
| Multiple cafe-au-lait spots | 0007565 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Myelodysplasia | 0002863 | |
| Nephroblastoma | 0002667 | |
| Osteolysis |
Breakdown of bone
|
0002797 |
| Rhabdomyosarcoma | 0002859 | |
| 0001250 | ||
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ]
|
0000340 |
| Stomach cancer | 0012126 | |
| Subvalvular aortic stenosis |
Narrowing of blood vessel below aortic heart valve
|
0001682 |
| Temporal bossing | 0032569 | |
| Vaginal |
Vaginal tumor
|
0100650 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
| 1%-4% of people have these symptoms | ||
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Cafe-au-lait spot | 0000957 | |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| 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 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Epidermoid cyst |
Skin cyst
|
0200040 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Growth |
0000824 | |
| Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 |
| 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 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
| Percent of people who have these symptoms is not available through HPO | ||
| Agenesis of corpus callosum | 0001274 | |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| 0000007 | ||
| Bifid scrotum |
Cleft of scrotum
|
0000048 |
| Bilateral tonic-clonic seizure |
Grand mal seizures
|
0002069 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Cerebral hypoplasia |
Small cerebrum
Underdeveloped cerebrum
[ more ]
|
0006872 |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Combined |
0005387 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Feeding difficulties in infancy | 0008872 | |
| Generalized myoclonic seizure | 0002123 | |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypodysplasia of the corpus callosum | 0006849 | |
| Hypospadias | 0000047 | |
| Intellectual disability, profound |
IQ less than 20
|
0002187 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Leukemia | 0001909 | |
| Long philtrum | 0000343 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| Premature |
0200024 | |
| Renal cyst |
Kidney cyst
|
0000107 |
| Severe global developmental delay | 0011344 | |
| Short neck |
Decreased length of neck
|
0000470 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Short sternum | 0000879 | |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Triangular mouth |
Triangular shaped mouth
|
0000207 |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Ventriculomegaly | 0002119 | |
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.
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
|
|---|
|
Aneuploidy can be a feature of chromosomal instability syndromes including Roberts syndrome, ataxia telangiectasia, xeroderma pigmentosum, Bloom syndrome, Werner syndrome and Nijmegen breakage syndrome. Microcephaly with chromosome instability can occur in Fanconi anemia (see these terms).
Visit the
Orphanet disease page
for more information.
|
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.
