Orpha Number: 3404
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 |
---|---|---|
30%-79% of people have these symptoms | ||
Abnormality of the penis | 0000036 | |
Aplasia/Hypoplasia of the ulna |
Absence/underdevelopment of inner forearm bone
|
0006495 |
Bilateral external ear deformity | 0040111 | |
Birth length less than 3rd percentile | 0003561 | |
Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
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 |
Enlarged labia minora | 0008683 | |
Fibular aplasia |
Absent calf bone
|
0002990 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Humeroradial synostosis |
Fusion of upper and lower arm bones
|
0003041 |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Large beaked nose | 0003683 | |
Long upper lip |
Elongation of upper lip
Increased height of upper lip
Increased vertical length of upper lip
[ more ]
|
0011341 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Maternal diabetes |
gestational diabetes
|
0009800 |
Mesomelia |
Disproportionately short middle portion of limb
|
0003027 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Narrow mouth |
Small mouth
|
0000160 |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Ovoid thoracolumbar vertebrae | 0003309 | |
Phocomelia | 0009829 | |
Pneumothorax |
Collapsed lung
|
0002107 |
Polycystic kidney dysplasia | 0000113 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Potter facies | 0002009 | |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ]
|
0000269 |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
Respiratory failure | 0002878 | |
Severe intrauterine growth retardation |
Severe prenatal growth deficiency
|
0008846 |
Short humerus |
Short long bone of upper arm
Short upper arms
[ more ]
|
0005792 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short neck |
Decreased length of neck
|
0000470 |
Short ribs | 0000773 | |
Short sternum | 0000879 | |
Single umbilical artery |
Only one artery in umbilical cord instead of two
|
0001195 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Thin ribs |
Slender ribs
|
0000883 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
Aplasia of the ulna | 0003982 | |
0000007 | ||
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Neonatal death |
Neonatal lethal
|
0003811 |
Renal dysplasia | 0000110 |
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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