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 |
---|---|---|
100% of people have these symptoms | ||
Myopia |
Near sightedness
Near sighted
Close sighted
Nearsightedness
[ more ]
|
0000545 |
80%-99% of people have these symptoms | ||
Aplasia/Hypoplasia of the tongue | 0010295 | |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
Chorioretinal dystrophy | 0001135 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Global |
0001263 | |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
Hypoplasia of the zygomatic bone |
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ]
|
0010669 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ]
|
0000527 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
Microcephaly |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ]
|
0001875 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
|
0001852 |
Short philtrum | 0000322 | |
Slender toe |
Narrow toe
|
0011308 |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
30%-79% of people have these symptoms | ||
Abnormality of skin pigmentation |
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
|
0001000 |
Cat cry |
cat-like cry
|
0200046 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Cubitus valgus |
Outward turned elbows
|
0002967 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
Feeding difficulties in infancy | 0008872 | |
Finger |
0006101 | |
Genu valgum |
Knock knees
|
0002857 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Macrodontia |
Increased width of tooth
|
0001572 |
Narrow palm | 0004283 | |
Obesity |
Having too much body fat
|
0001513 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Thick hair |
Increased hair density
|
0100874 |
Weak cry | 0001612 | |
5%-29% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ]
|
0009906 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Iris coloboma |
Cat eye
|
0000612 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Mitral valve prolapse | 0001634 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Optic atrophy | 0000648 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Preauricular skin tag | 0000384 | |
0002650 | ||
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
1%-4% of people have these symptoms | ||
Bone spicule pigmentation of the retina | 0007737 | |
Bull's eye maculopathy | 0011504 | |
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ]
|
0000662 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ]
|
0001321 |
Childhood-onset truncal obesity | 0008915 | |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
Facial hypotonia |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ]
|
0000297 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Growth |
0000824 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
Laryngomalacia |
Softening of voice box tissue
|
0001601 |
Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ]
|
0001882 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Macrodontia of permanent maxillary central incisor | 0000675 | |
Motor delay | 0001270 | |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Single transverse palmar crease | 0000954 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ]
|
0001518 |
Thick |
0007074 | |
Thoracic scoliosis | 0002943 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
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
|
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Differential diagnoses include Bardet-Biedl syndrome, Prader-Willi syndrome, Cri-du-chat syndrome, Alström syndrome, Angelman syndrome, Williams syndrome, MORM syndrome and monosomy 1p36 (see these terms). Mirhosseini-Holmes-Walton syndrome is considered allelic to CS and is clinically indistinguishable.
Visit the
Orphanet disease page
for more information.
|
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.
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