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Disease Profile
Stickler syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Neonatal
ICD-10
Q87.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Categories
Congenital and Genetic Diseases
Summary
Stickler
Stickler syndrome is caused by genetic changes (
Symptoms
Eye abnormalities associated with Stickler syndrome may include extreme near-sightedness (myopia). This can cause an increased risk for retinal detachment or the development of clouding of the lens (
Stickler syndrome can cause people to have joint problems. Children with this syndrome may experience loose joints (joint laxity) or may be very flexible. Some people may develop
Other signs of Stickler syndrome may include an increased risk for the valves in the heart to close improperly (mitral valve prolapse).[1]
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 vitreous humor morphology | 0004327 | |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Arthralgia |
Joint pain
|
0002829 |
Cataract |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 |
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 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
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 |
Long philtrum | 0000343 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Retinal detachment |
Detached retina
|
0000541 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Skeletal dysplasia | 0002652 | |
Telecanthus |
Corners of eye widely separated
|
0000506 |
30%-79% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Bone pain | 0002653 | |
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
Cleft palate |
Cleft roof of mouth
|
0000175 |
Cleft upper lip |
Harelip
|
0000204 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Disproportionate tall stature | 0001519 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Genu valgum |
Knock knees
|
0002857 |
Glossoptosis |
Retraction of the tongue
|
0000162 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Micrognathia |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 |
Mitral valve prolapse | 0001634 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Scoliosis | 0002650 | |
Sensorineural hearing impairment | 0000407 | |
5%-29% of people have these symptoms | ||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Advanced eruption of teeth |
Early eruption of teeth
|
0006288 |
Blindness | 0000618 | |
Cachexia |
Wasting syndrome
|
0004326 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Ectopia lentis | 0001083 | |
Feeding difficulties in infancy | 0008872 | |
0000501 | ||
Hemiplegia/hemiparesis |
Paralysis or weakness of one side of body
|
0004374 |
Hip dislocation |
Dislocated hips
Dislocation of hip
In some cases, people who have symptoms of Stickler syndrome have Some people with Stickler syndrome may decide to have Treatment for Stickler syndrome is aimed at treating the specific symptoms each person has. For some, this may involve surgeries to correct cleft palate or retinal detachment. Other treatments may include hearing aids for 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. Rare Dermatology News |