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 | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Delayed cranial suture closure | 0000270 | |
| Elbow ankylosis | 0003070 | |
| Femoral bowing |
Bowed thighbone
|
0002980 |
| Frontal bossing | 0002007 | |
| Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
|
0010669 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
| Narrow pelvis bone | 0003275 | |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| 30%-79% of people have these symptoms | ||
| Abnormal renal morphology |
Abnormally shaped kidney
Kidney malformation
Kidney structure issue
Structural kidney abnormalities
[ more ]
|
0012210 |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
| 0001363 | ||
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| 5%-29% of people have these symptoms | ||
| Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
|
Cleft roof of mouth
|
0000175 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Long philtrum | 0000343 | |
| Narrow mouth |
Small mouth
|
0000160 |
| Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|
0002757 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Talipes | 0001883 | |
| Turricephaly |
Tall shaped skull
Tower skull shape
[ more ]
|
0000262 |
| Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the endocrine system | 0000818 | |
| Abnormality of the pinna |
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ]
|
0000377 |
| Anteriorly placed anus | 0001545 | |
| Arnold-Chiari malformation | 0002308 | |
| 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 | ||
| 0000007 | ||
| Bifid scrotum |
Cleft of scrotum
|
0000048 |
| Bronchomalacia | 0002780 | |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Carpal synostosis | 0009702 | |
| Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 |
| Chordee | 0000041 | |
| Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
| Cloverleaf skull | 0002676 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Coronal craniosynostosis | 0004440 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Decreased circulating |
Decreased serum progesterone
|
0008233 |
| 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 |
| Elevated circulating 17-hydroxyprogesterone | 0031213 | |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Fused labia minora |
Fused inner lips
|
0000063 |
| Hemivertebrae |
Missing part of vertebrae
|
0002937 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
| Humeroradial synostosis |
Fusion of upper and lower arm bones
|
0003041 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ]
|
0000059 |
| Hypospadias | 0000047 | |
| Increased circulating ACTH level |
High blood corticotropin levels
|
0003154 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Joint contracture of the hand | 0009473 | |
| Labial hypoplasia |
Underdeveloped labia
|
0000066 |
| Lambdoidal craniosynostosis | 0004443 | |
| Laryngomalacia |
Softening of voice box tissue
|
0001601 |
| Low maternal serum estriol | 0008073 | |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Maternal virilization in pregnancy | 0008072 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Polycystic ovaries | 0000147 | |
| Radioulnar synostosis |
Fused forearm bones
|
0002974 |
| Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ]
|
0001838 |
| 0002650 | ||
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| Simple ear | 0020206 | |
| Single umbilical artery |
Only one artery in umbilical cord instead of two
|
0001195 |
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
| Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
| Tarsal synostosis |
Fused ankle bones
|
0008368 |
| Temporal bossing | 0032569 | |
| Ulnar bowing |
Curving of inner forearm bone
|
0003031 |
| Upper airway obstruction | 0002781 | |
| Vaginal atresia |
Abnormally closed or absent vagina
|
0000148 |
| Vesicovaginal fistula | 0001586 | |
| Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
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
|
|---|
|
A similar clinical picture is observed in patients exposed in utero to fluconazole, a lanosterol 14 alpha-demethylase inhibitor.
Visit the
Orphanet disease page
for more information.
|
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
