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 | ||
Coarse facial features |
Coarse facial appearance
|
0000280 |
Increased arm span | 0012771 | |
Tall stature |
Increased body height
|
0000098 |
30%-79% of people have these symptoms | ||
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ]
|
0005616 |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Brain |
0410263 | |
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
Constipation | 0002019 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Flushing | 0031284 | |
Global |
0001263 | |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
Prolonged neonatal |
Prolonged yellowing of skin in newborn
|
0006579 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
0002650 | ||
Sparse anterior scalp hair |
Sparse scalp hair at front of head
Thin scalp hair at front of head
[ more ]
|
0004768 |
Tall chin |
Increased height of chin
Long chin
[ more ]
|
0400000 |
5%-29% of people have these symptoms | ||
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
Aplasia/Hypoplasia of the |
0007370 | |
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 |
Autistic behavior | 0000729 | |
Bilateral tonic-clonic |
Grand mal seizures
|
0002069 |
Cavum septum pellucidum | 0002389 | |
Cerebellar vermis hypoplasia | 0001320 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Dyscalculia | 0002442 | |
Enlarged cisterna magna | 0002280 | |
Focal impaired awareness seizure | 0002384 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
Generalized myoclonic seizure | 0002123 | |
Generalized non-motor (absence) seizure |
Brief seizures with staring spells
|
0002121 |
Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Large hands |
large hand
|
0001176 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Patent ductus arteriosus | 0001643 | |
Pedal edema |
Fluid accumulation in lower limbs
Lower leg swelling
[ more ]
|
0010741 |
Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
Poor coordination | 0002370 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
Tremor | 0001337 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Ventriculomegaly | 0002119 | |
Vesicoureteral reflux | 0000076 | |
1%-4% of people have these symptoms | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Abnormal vertebral morphology | 0003468 | |
Acute lymphoblastic leukemia | 0006721 | |
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Ankle flexion |
0006466 | |
Astrocytoma | 0009592 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ]
|
0007018 |
Bilateral camptodactyly | 0005617 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Cholesteatoma | 0009797 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
0010957 | ||
0001363 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Decreased fertility |
Abnormal fertility
|
0000144 |
Hemangioma |
Strawberry mark
|
0001028 |
Hip contracture | 0003273 | |
Hydrocele |
0000034 | |
Hydronephrosis | 0000126 | |
Hypercalcemia |
High blood calcium levels
Increased calcium in blood
[ more ]
|
0003072 |
Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Hypospadias | 0000047 | |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Inguinal hernia | 0000023 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Neonatal |
Low blood sugar in newborn
|
0001998 |
Neuroblastoma |
Cancer of early nerve cells
|
0003006 |
No permanent dentition |
Absence of adult teeth
Missing adult teeth
[ more ]
|
0008498 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Phimosis | 0001741 | |
Pulmonary bleb | 0032447 | |
Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
Sacrococcygeal teratoma | 0030736 | |
Small |
0030357 | |
Small nail |
Small nails
|
0001792 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Umbilical hernia | 0001537 | |
Ureteral |
Double ureter
|
0000073 |
Ureteropelvic junction obstruction | 0000074 | |
Percent of people who have these symptoms is not available through HPO | ||
Advanced eruption of teeth |
Early eruption of teeth
|
0006288 |
0000006 | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
Expressive language delay | 0002474 | |
Frontal bossing | 0002007 | |
Genu valgum |
Knock knees
|
0002857 |
Glucose intolerance | 0001952 | |
High anterior hairline |
High frontal hairline
|
0009890 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Long foot |
Disproportionately large feet
large feet
long feet
[ more ]
|
0001833 |
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 |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Nephroblastoma | 0002667 | |
Otitis media |
Middle ear infection
|
0000388 |
Partial agenesis of the corpus callosum | 0001338 | |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
Seizure | 0001250 | |
Sporadic |
No previous family history
|
0003745 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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
If my brother has the syndrome and there is no family history of any mental disabilities, is there a reason for me to get tested? Also, it confuses me as the mode of inheritance is said to be autosomal dominant. Is the implication that Sotos patients are having children? If there are other higher functioning people, I would understand. If it is truly autosomal dominant, by not having it, I would assume that I would not need to be tested. If I do not have it, it must mean that I am homozygous recessive? See answer