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 | ||
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
0009059 | ||
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Entropion |
Eyelid turned in
|
0000621 |
Frontal bossing | 0002007 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Large beaked nose | 0003683 | |
Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
Loss of facial adipose |
Decreased amount of facial fat
Loss of facial fat
[ more ]
|
0000292 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Narrow mouth |
Small mouth
|
0000160 |
Natal tooth |
Born with teeth
Teeth present at birth
[ more ]
|
0000695 |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Progeroid facial appearance |
Premature aged appearance
|
0005328 |
Prominent scalp veins | 0001043 | |
Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
Relative macrocephaly |
Relatively large head
|
0004482 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
Severe intrauterine growth retardation |
Severe prenatal growth deficiency
|
0008846 |
Short philtrum | 0000322 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Slender build |
Thin build
|
0001533 |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
|
0000325 |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Widely patent fontanelles and sutures | 0004492 | |
30%-79% of people have these symptoms | ||
Darkened and thickened skin
|
0000956 | |
Aplasia/Hypoplasia of the nails |
Absent/small nails
Absent/underdeveloped nails
[ more ]
|
0008386 |
Caesarian section | 0011410 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
0003429 | ||
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ]
|
0001289 |
Corneal opacity | 0007957 | |
Cranial asymmetry | 0000267 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Dermal translucency | 0010648 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Fever | 0001945 | |
Global developmental delay | 0001263 | |
Growth |
0000824 | |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
Hip dysplasia | 0001385 | |
Hirsutism |
Excessive hairiness
|
0001007 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hydronephrosis | 0000126 | |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
Hypertriglyceridemia |
Increased serum triglycerides
Increased plasma triglycerides
Increased triglycerides
[ more ]
|
0002155 |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Hypogonadotropic |
0000044 | |
Increased circulating prolactin concentration | 0000870 | |
Increased subcutaneous truncal adipose tissue |
Increased fat below the skin in trunk
|
0009003 |
Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
Irregular sclerotic endplates | 0008476 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
Kyphoscoliosis | 0002751 | |
Leukodystrophy | 0002415 | |
Limb hypertonia |
Increased muscle tone of arm or leg
|
0002509 |
Long fingers | 0100807 | |
Long toe |
Increased length of toes
Long toes
[ more ]
|
0010511 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Myalgia |
Muscle ache
Muscle pain
[ more ]
|
0003326 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Osteopenia | 0000938 | |
Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ]
|
0006480 |
Premature skin wrinkling | 0100678 | |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
Short femur |
Short thighbone
|
0003097 |
Short humerus |
Short long bone of upper arm
Short upper arms
[ more ]
|
0005792 |
Skeletal muscle hypertrophy |
Increased skeletal muscle cells
|
0003712 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Submucous cleft soft palate | 0011819 | |
Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
Synovitis | 0100769 | |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
Thin long bone diaphyses |
Thin shaft of long bone
|
0006470 |
Thin skin | 0000963 | |
Truncal |
Instability or lack of coordination of central trunk muscles
|
0002078 |
Wide nasal ridge |
Increased width of nasal ridge
|
0012811 |
5%-29% of people have these symptoms | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Abnormal corpus striatum morphology | 0010994 | |
Absent earlobe |
Earlobe, absent
Lobeless ears
[ more ]
|
0000387 |
Action tremor | 0002345 | |
Agenesis of |
0001274 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Arnold-Chiari type I malformation | 0007099 | |
Atlantoaxial abnormality | 0003413 | |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
Cervical vertebral dysplasia | 0008469 | |
Dilatation of renal calices | 0100581 | |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Enlarged male breast
|
0000771 | |
Hypoplastic ilia | 0000946 | |
Hypoplastic vertebral bodies |
Underdeveloped back bones
|
0008479 |
Hypospadias | 0000047 | |
Laryngomalacia |
Softening of voice box tissue
|
0001601 |
Nystagmus |
Involuntary, rapid, rhythmic eye movements
|
0000639 |
Optic atrophy | 0000648 | |
Pigmentary retinopathy | 0000580 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ]
|
0000010 |
0001250 | ||
Vesicoureteral reflux | 0000076 | |
Wide penis | 0030265 | |
1%-4% of people have these symptoms | ||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Broad eyebrow |
Broad eyebrows
Flared eyebrow
Increased vertical height of eyebrow
Increased vertical thickness of eyebrow
[ more ]
|
0011229 |
Congenital malformation of the left heart | 0045017 | |
Dysplastic pulmonary valve | 0005164 | |
Hyperthyroidism |
Overactive thyroid
|
0000836 |
Increased serum estradiol | 0025134 | |
Increased serum testosterone level | 0030088 | |
Lagopthalmos |
Eyelids stay open
Inability to close the eyelids
[ more ]
|
0030001 |
Optic disc hypoplasia | 0007766 | |
Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ]
|
0005978 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Absence of subcutaneous fat |
Absent fat below the skin
Lack of fatty tissue below the skin
[ more ]
|
0007485 |
Arnold-Chiari malformation | 0002308 | |
0000007 | ||
Congenital onset |
Symptoms present at birth
|
0003577 |
Dandy-Walker malformation | 0001305 | |
Delayed closure of the anterior fontanelle |
Later than typical closing of soft spot of skull
|
0001476 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
Ectropion |
Eyelid turned out
|
0000656 |
Generalized amyotrophy |
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ]
|
0003700 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Hypertonia | 0001276 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Intention tremor | 0002080 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Large hands |
large hand
|
0001176 |
Long foot |
Disproportionately large feet
large feet
long feet
[ more ]
|
0001833 |
Long penis |
Enlarged penis
|
0000040 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Narrow nasal ridge |
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ]
|
0000418 |
Parietal bossing | 0000242 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
0002650 | ||
Small nail |
Small nails
|
0001792 |
Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
Sparse hair | 0008070 | |
Sudanophilic leukodystrophy | 0003269 | |
Thin ribs |
Slender ribs
|
0000883 |
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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. Submit a new question
Who is affected by neonatal progeroid syndrome? See answer
My niece has been diagnosed with Wiedemann-Rautenstrauch syndrome and I was wondering what is known about the syndrome.
See answer