Orpha Number: 2963
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 dermatoglyphics |
Abnormal fingerprints
|
0007477 |
| Abnormality of the nail | 0001597 | |
| Brittle hair | 0002299 | |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Decreased skull ossification |
Decreased bone formation of skull
|
0004331 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
| Long eyelashes in irregular rows | 0007740 | |
| Low-set, posteriorly rotated ears | 0000368 | |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
| Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
| Reduced number of teeth |
Decreased tooth count
|
0009804 |
| Reduced subcutaneous adipose |
Reduced fat tissue below the skin
|
0003758 |
| Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
| Shagreen patch | 0009721 | |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Sparse hair | 0008070 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| Umbilical hernia | 0001537 | |
| Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
| 1%-4% of people have these symptoms | ||
| Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
|
0001627 |
| Anonychia |
Absent nails
Aplastic nails
[ more ]
|
0001798 |
| Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
| Aplastic/hypoplastic lacrimal glands |
Absent/underdeveloped tear glands
|
0008038 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Coronal |
0004440 | |
| Dermal translucency | 0010648 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
| Hypertrichosis | 0000998 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| Premature skin wrinkling | 0100678 | |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Small nail |
Small nails
|
0001792 |
|
Webbed fingers or toes
|
0001159 | |
| Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
| 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 |
| Absent distal phalanges |
Absent outermost digital bones
|
0005807 |
| Absent nipple |
Absent nipples
|
0002561 |
| Anteriorly placed anus | 0001545 | |
| 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 | ||
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
| Cerebellar vermis hypoplasia | 0001320 | |
| Coarse hair |
Coarse hair texture
|
0002208 |
|
Symptoms present at birth
|
0003577 | |
| Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Deep palmar crease |
Deep palm line
|
0006191 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| 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 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the abdominal wall musculature | 0005247 | |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ]
|
0000059 |
| Hypoplastic nipples |
Small nipples
|
0002557 |
| Left ventricular hypertrophy | 0001712 | |
| Long philtrum | 0000343 | |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Microdontia |
Decreased width of tooth
|
0000691 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Narrow mouth |
Small mouth
|
0000160 |
| Oligodontia |
Failure of development of more than six teeth
|
0000677 |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Patent ductus arteriosus | 0001643 | |
| Periventricular heterotopia | 0007165 | |
| Platyspondyly |
Flattened vertebrae
|
0000926 |
| Pneumothorax |
Collapsed lung
|
0002107 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Protruding tongue |
Prominent tongue
Tongue sticking out of mouth
[ more ]
|
0010808 |
| Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
| Recurrent aspiration pneumonia | 0002100 | |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| 0002650 | ||
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
| Smooth philtrum | 0000319 | |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
|
0000325 |
| Tricuspid regurgitation | 0005180 | |
| Turricephaly |
Tall shaped skull
Tower skull shape
[ more ]
|
0000262 |
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.
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.
