Orpha Number: 3339
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 | ||
| Absent septum pellucidum | 0001331 | |
| Agenesis of |
0001274 | |
| Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ]
|
0008065 |
| Generalized hyperpigmentation | 0007440 | |
| Limbal dermoid | 0001140 | |
| 30%-79% of people have these symptoms | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Abnormality of the ureter | 0000069 | |
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
|
Short fingers or toes
|
0001156 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Laryngeal hypoplasia | 0008749 | |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Short palm | 0004279 | |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| 5%-29% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormality of the bladder | 0000014 | |
| Arachnoid cyst |
Fluid-filled sac located in membrane surrounding brain or spinal cord
|
0100702 |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| 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 |
| Epispadias | 0000039 | |
| Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ]
|
0000625 |
| Global |
0001263 | |
| Hypospadias | 0000047 | |
| Opacification of the corneal stroma | 0007759 | |
| Parietal bossing | 0000242 | |
| 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 | ||
| Anisometropia | 0012803 | |
| Aplasia cutis congenita |
Absence of part of skin at birth
|
0001057 |
| 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 |
| 0000006 | ||
| Bladder exstrophy | 0002836 | |
| Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ]
|
0001680 |
| Epidermal nevus | 0010816 | |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Hyperactivity |
More active than typical
|
0000752 |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
| Lower limb asymmetry |
Left and right leg differ in length or width
|
0100559 |
| Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
| Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Patent ductus arteriosus | 0001643 | |
| 0001250 | ||
| Short neck |
Decreased length of neck
|
0000470 |
| 0001428 | ||
| Supernumerary nipple |
Accessory nipple
|
0002558 |
| Transient ischemic attack |
Mini stroke
|
0002326 |
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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