Stickler syndrome

Also known as: hereditary arthro-ophthalmo-dystrophy, hereditary arthro-ophthalmopathy, Stickler dysplasia


Genetics Home Reference

Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.

A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appearance results from underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing.

Many people with Stickler syndrome have severe nearsightedness (high myopia). In some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance, which is noticeable during an eye examination. Other eye problems are also common, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the lining of the eye (retinal detachment). These eye abnormalities cause impaired vision or blindness in some cases.

In people with Stickler syndrome, hearing loss varies in degree and may become more severe over time. The hearing loss may be sensorineural, meaning that it results from changes in the inner ear, or conductive, meaning that it is caused by abnormalities of the middle ear.

Most people with Stickler syndrome have skeletal abnormalities that affect the joints. The joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. Arthritis often appears early in life and may cause joint pain or stiffness. Problems with the bones of the spine (vertebrae) can also occur, including abnormal curvature of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). These spinal abnormalities may cause back pain.

Researchers have described several types of Stickler syndrome, which are distinguished by their genetic causes and their patterns of signs and symptoms. In particular, the eye abnormalities and severity of hearing loss differ among the types. Type I has the highest risk of retinal detachment. Type II also includes eye abnormalities, but type III does not (and is often called non-ocular Stickler syndrome). Types II and III are more likely than type I to have significant hearing loss. Types IV, V, and VI are very rare and have each been diagnosed in only a few individuals.

A condition similar to Stickler syndrome, called Marshall syndrome, is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Marshall syndrome can also include short stature. Some researchers have classified Marshall syndrome as a variant of Stickler syndrome, while others consider it to be a separate disorder.

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Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases).

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Medical Term Other Names Description
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Blindness Legal blindness Blindness is the condition of lacking visual perception due to physiological or neurological factors.
Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
High myopia Severely near sighted, Severe myopia, Severely close sighted, Severe near sightedness, Severe myopia (> -6.00 diopters) [more] A severe form of myopia with greater than -6.00 diopters.
Feeding difficulties Feeding problems, Poor feeding Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Pierre-Robin sequence Pierre-robin malformation, Pierre-robin deformity, Robin sequence, Pierre-robin anomaly [more] Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
Vitreoretinopathy Vitreoretinal abnormality
Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Retinal detachment Detached retina Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
Sensorineural hearing impairment Hearing loss, sensorineural, Sensorineural deafness [more] A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Visual impairment Impaired vision, Loss of eyesight, Poor vision [more] Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Epiphora Tearing, Increased tears, Watery eyes, Increased lacrimation [more] Abnormally increased lacrimation, that is, excessive tearing (watering eye).
Platyspondyly Flattened vertebral bodies, Flat vertebral bodies, Flattened vertebrae [more] A flattened vertebral body shape with reduced distance between the vertebral endplates.
Arthralgia Joint pain Joint pain.
Scoliosis Curved spine, Abnormal curving of the spine, Curvature of spine [more] The presence of an abnormal lateral curvature of the spine.
Kyphosis Gibbus deformity, Hyperkyphosis, Round back, Hunched back [more] Exaggerated anterior convexity of the thoracic vertebral column.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Cataract Lens opacities, Lens opacity, Cloudy lens [more] A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Myopia Near sightedness, Close sighted, Nearsightedness, Near sighted [more] An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Arthritis Joint inflammation Inflammation of a joint.
Glossoptosis Lingual retraction, Retraction of the tongue, Posterior displacement of the tongue [more] Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
Cleft palate Cleft of hard and soft palate, Palatoschisis, Uranostaphyloschisis [more] Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Micrognathia Lower jaw hypoplasia, Mandibular deficiency, Retrusion of lower jaw, Hypoplastic mandible condyle, Small mandible, Decreased projection of lower jaw, Micrognathia of lower jaw, Mandibular retrognathia, Mandibular retrusion, Decreased size of lower jaw, Micromandible, Underdevelopment of lower jaw, Hypotrophic mandible, Hypotrophic lower jaw, Robin mandible, Little mandible, Underdevelopment of mandible, Small jaw, Decreased size of mandible, Hypoplastic mandible, Little lower jaw, Decreased projection of mandible, Mandibular micrognathia, Lower jaw retrognathia [more] Developmental hypoplasia of the mandible.
Hearing abnormality Abnormal hearing An abnormality of the sensory perception of sound.

Other Classifiers and IDs

  • OrphaNet: ORPHA:828
  • MedDRA: 10063402
  • MeSH: C537492
  • UMLS: C0265253