Orpha Number: 254346
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 | ||
| 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 |
| Global |
0001263 | |
| 30%-79% of people have these symptoms | ||
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
| 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 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| External ear malformation | 0008572 | |
| Hyperactivity |
More active than typical
|
0000752 |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ]
|
0000446 |
| 0002650 | ||
| 0001250 | ||
| Sensorineural hearing impairment | 0000407 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Short palm | 0004279 | |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
| Ventriculomegaly | 0002119 | |
| 5%-29% of people have these symptoms | ||
| Aortic regurgitation | 0001659 | |
| Aplasia/Hypoplasia of the cerebellar vermis | 0006817 | |
| Arthrogryposis multiplex congenita | 0002804 | |
|
Cleft roof of mouth
|
0000175 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| 0001363 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Deep palmar crease |
Deep palm line
|
0006191 |
| Deep plantar creases |
Deep wrinkles in soles of feet
|
0001869 |
| Finger |
0006101 | |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
| Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Hypospadias | 0000047 | |
| Hypothyroidism |
Underactive thyroid
|
0000821 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Long philtrum | 0000343 | |
| Mitral regurgitation | 0001653 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Obesity |
Having too much body fat
|
0001513 |
| Precocious puberty |
Early onset of puberty
Early puberty
[ more ]
|
0000826 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
|
0001852 |
| Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Toe clinodactyly | 0001863 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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.
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.
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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