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 | ||
| Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
| Absent fingernail | 0001817 | |
| 0002353 | ||
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| Global |
0001263 | |
| Long philtrum | 0000343 | |
| Toenail dysplasia |
Abnormal toenail development
|
0100797 |
| Wide nasal base |
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose
[ more ]
|
0012810 |
| 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 | ||
| Aplasia/Hypoplasia of the phalanges of the 2nd toe |
Absent/small bones of 2nd toe
Absent/underdeveloped bones of 2nd toe
[ more ]
|
0010347 |
| Bilateral tonic-clonic |
Grand mal seizures
|
0002069 |
| Bulbous nose | 0000414 | |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Focal impaired awareness seizure | 0002384 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Increased urine alpha-ketoglutarate concentration | 0012402 | |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Poor suck |
Poor sucking
|
0002033 |
| Short 5th finger |
Short fifth finger
Short fifth fingers
Short little finger
Short pinkie finger
Short pinky finger
[ more ]
|
0009237 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
| Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
|
0000474 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| 5%-29% of people have these symptoms | ||
| Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
|
0001627 |
| Aspiration pneumonia | 0011951 | |
| Autistic behavior | 0000729 | |
| Bilateral |
Drooping of both upper eyelids
|
0001488 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Broad alveolar ridges | 0000187 | |
| Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
| Capillary hemangioma |
Strawberry birthmark
|
0005306 |
|
Cleft roof of mouth
|
0000175 | |
|
Underactive thyroid gland from birth
|
0000851 | |
| Cystic renal dysplasia | 0000800 | |
| Dandy-Walker malformation | 0001305 | |
| Delayed eruption of permanent teeth |
Delayed eruption of adult teeth
|
0000696 |
| Double outlet right ventricle | 0001719 | |
| Frontal bossing | 0002007 | |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Macrodontia of permanent maxillary central incisor | 0000675 | |
| Malalignment of the great toenail | 0031282 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Myoclonus | 0001336 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Narrow palate |
Narrow roof of mouth
|
0000189 |
| Nephrocalcinosis |
Too much calcium deposited in kidneys
|
0000121 |
| Optic atrophy | 0000648 | |
| 0009830 | ||
| Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ]
|
0000269 |
| Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| Sagittal |
Early closure of midline skull joint
Midline skull joint closes early
[ more ]
|
0004442 |
| Short lingual frenulum | 0000200 | |
| Small cerebellar cortex | 0031423 | |
| Triphalangeal thumb |
Finger-like thumb
|
0001199 |
| Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ]
|
0000687 |
| 1%-4% of people have these symptoms | ||
| 11 pairs of ribs | 0000878 | |
| Abnormality of placental membranes | 0011409 | |
| Adrenal hyperplasia |
Enlarged adrenal glands
|
0008221 |
| Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
| Anterior plagiocephaly |
Anterior flat head syndrome
|
0011326 |
| Arrhinencephaly | 0002139 | |
| Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Congenital |
0006934 | |
| Cutaneous |
0012725 | |
| Equinovarus deformity | 0008110 | |
| Hemivertebrae |
Missing part of vertebrae
|
0002937 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hydronephrosis | 0000126 | |
| Lumbar |
0004626 | |
| Polymicrogyria |
More grooves in brain
|
0002126 |
| Sirenomelia | 0010497 | |
| Spina bifida occulta | 0003298 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Thrombocytosis |
Increased number of platelets in blood
|
0001894 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the skin | 0000951 | |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| 0000007 | ||
| Bilateral sensorineural hearing impairment | 0008619 | |
| Blindness | 0000618 | |
|
Short fingers or toes
|
0001156 | |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| High myopia |
Severe near sightedness
Severely close sighted
Severely near sighted
[ more ]
|
0011003 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Nail dystrophy |
Poor nail formation
|
0008404 |
| Polyneuropathy |
Peripheral nerve disease
|
0001271 |
| Profound sensorineural hearing impairment | 0011476 | |
| Progressive |
Worsens with time
|
0003676 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Seizure | 0001250 | |
| Sensorineural hearing impairment | 0000407 | |
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
|
|---|
|
Differential diagnoses include Coffin-Siris syndrome, intellectual disability-sparse hair-brachydactyly syndrome, Zimmermann-Laband syndrome, fetal alcohol syndrome and Temple-Baraitser syndrome, autosomal dominant deafness-onychodystrophy syndrome, and disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.
Visit the
Orphanet disease page
for more information.
|
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