Orpha Number: 2729
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 helix | 0011039 | |
|
Cleft roof of mouth
|
0000175 | |
| 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 |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
| Global |
0001263 | |
| Hydronephrosis | 0000126 | |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
| Long palpebral fissure |
Broad opening between the eyelids
Long opening between the eyelids
Wide opening between the eyelids
[ more ]
|
0000637 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Motor delay | 0001270 | |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Severe postnatal growth retardation |
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ]
|
0008850 |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| Ureteropelvic junction obstruction | 0000074 | |
| Webbed neck |
Neck webbing
|
0000465 |
| 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 |
| 30%-79% of people have these symptoms | ||
| Exaggerated median tongue furrow |
Deep central lingual groove
Deep central tongue groove
[ more ]
|
0002711 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Hip dysplasia | 0001385 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Omphalocele | 0001539 | |
| Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ]
|
0010807 |
|
More than five fingers or toes on hands or feet
|
0010442 | |
|
Drooping upper eyelid
|
0000508 | |
| 5%-29% of people have these symptoms | ||
| Abnormal left ventricle morphology | 0001711 | |
| Abnormal mitral valve morphology | 0001633 | |
| Abnormally large globe |
Increased size of eyes
Large eyes
[ more ]
|
0001090 |
| Anal stenosis |
Narrowing of anal opening
|
0002025 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| Bifid uterus | 0000136 | |
| 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 |
| Extension of hair growth on temples to lateral eyebrow | 0005325 | |
| Facial hypertrichosis |
Increased facial hair growth
|
0002219 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Infra-orbital crease |
Crease in skin under the eye
Groove in skin under the eye
[ more ]
|
0100876 |
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
| Intestinal malrotation | 0002566 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Macrotia |
Large ears
|
0000400 |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Primum atrial septal defect | 0010445 | |
| Prominent metopic ridge | 0005487 | |
| Prominent supraorbital ridges |
Prominent brow
|
0000336 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Redundant neck skin |
Excess neck skin
Excess skin over the neck
Redundant skin folds of neck
Redundant skin over the neck
[ more ]
|
0005989 |
| 0002650 | ||
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Syringomyelia |
Fluid-filled cyst in spinal cord
|
0003396 |
| Talipes | 0001883 | |
| Tented upper lip vermilion | 0010804 | |
| Tethered cord | 0002144 | |
| Unilateral renal hypoplasia |
Small kidney on one side
Underdeveloped kidney on one side
[ more ]
|
0012583 |
| Urinary incontinence |
Loss of bladder control
|
0000020 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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.
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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