Orpha Number: 93271
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 | ||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ]
|
0003270 |
Abnormal pelvis bone ossification | 0009106 | |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Disproportionate short-limb |
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ]
|
0008873 |
Lethal skeletal dysplasia |
Lethal dwarfism identifiable at birth
|
0005716 |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Short palm | 0004279 | |
Short ribs | 0000773 | |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
30%-79% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Absent or minimally ossified vertebral bodies | 0004599 | |
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
Cleft upper lip |
Harelip
|
0000204 |
Excessive buildup of connective tissue and scarring of liver at birth
|
0002612 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
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 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Frontal bossing | 0002007 | |
Hydronephrosis | 0000126 | |
Hydrops fetalis | 0001789 | |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Long philtrum | 0000343 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
Urethrovaginal fistula | 0008716 | |
Uterus didelphys | 0003762 | |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
5%-29% of people have these symptoms | ||
Agenesis of |
0001274 | |
Anal atresia |
Absent anus
|
0002023 |
Bifid epiglottis | 0010564 | |
Bifid tongue |
Cleft tongue
Forked tongue
Split tongue
[ more ]
|
0010297 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
Dandy-Walker malformation | 0001305 | |
Ectopic anus |
Abnormal anus position
|
0004397 |
Esophageal atresia |
Birth defect in which part of esophagus did not develop
|
0002032 |
Facial cleft |
Cleft of the face
|
0002006 |
Omphalocele | 0001539 | |
Preaxial hand polydactyly |
Extra thumb
|
0001177 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
Renal cyst |
Kidney cyst
|
0000107 |
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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