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斯蒂克勒綜合徵是一組的特點是獨特的面容遺傳性疾病，眼部異常，聽力喪失，關節問題。這些跡象和症狀差異很大影響的個體之間。

斯蒂克勒綜合徵的一個特徵是一個有點扁平的面部美觀。 這是通過不發達骨骼中的面部的中間，包括顴骨和鼻樑引起的。 一組特定的物理特徵，被稱為皮埃爾·羅賓序列，也常見於患有斯蒂克勒綜合徵。 羅賓序列包括在口中的頂部有一開口（腭裂），被放置更靠後比正常（glossoptosis）一舌，和一個小下頜（頜）。 這種特性組合可能會導致餵養問題和呼吸困難。

很多人有斯蒂克勒綜合徵有嚴重的近視（近視度數高）。 在一些情況下，透明凝膠填充眼球（玻璃體）具有異常外觀，這是在眼科檢查可見。 等眼部問題也很​​常見，包括眼（青光眼）內壓力增高，混濁的眼睛（白內障）的鏡頭，並流淚眼（視網膜脫離）的襯裡。 這些眼部異常可能會導致視力受損或失明的情況。

斯蒂克勒綜合徵的另一個特徵是聽力損失。 聽力損失的程度受影響的個體之間的差異，並可能隨著時間變得更為嚴重。

大多數人以斯蒂克勒綜合徵具有影響的關節的骨骼異常。 受影響的兒童和年輕人的關節可能鬆動和非常靈活（hypermobile），但關節變得不太靈活隨著年齡的增長。 關節炎經常出現在生命的早期，並可能導致關節疼痛或僵硬。 與脊柱（椎骨）的骨頭問題也可能發生，包括脊柱（脊柱側彎後凸或）彎曲異常和扁平椎骨（platyspondyly）。 這些脊髓異常可能會導致背部疼痛。

研究人員已經描述了幾種類型的斯蒂克勒綜合徵，這是由它們的遺傳原因和它們的特徵的症狀和體徵區分。 特別是，眼畸形和聽力損失的嚴重程度之間的類型不同。 I型有視網膜脫離的風險最高。 II型也包括眼睛異常，但III型不（和通常被稱為非眼部斯蒂克勒綜合徵）。 II型和III更有可能比Ⅰ型有聽力損失。 IV型和V是非常罕見的，只有被診斷出的少數人。

所謂馬歇爾綜合徵類似情況的特點是獨特的面容，眼部異常，聽力喪失，早發性關節炎。馬歇爾綜合徵也可包括身材矮小，其通常沒有看到在人與斯蒂克勒綜合徵。 無論是馬歇爾綜合徵代表斯蒂克勒綜合徵或獨立疾病的一個變種是有爭議的。

斯蒂克勒綜合徵會影響7500至9000新生兒估計1。

在COL2A1，COL11A1，COL11A2，COL9A1和COL9A2基因的突變導致斯蒂克勒綜合徵I型到V，分別。 馬歇爾綜合徵，這可能是斯蒂克勒綜合徵的一個變型中，起因於在COL11A1基因突變。

上面列出的基因參與生產的三種類型的膠原蛋白：II型，IX型，和XI型。 膠原蛋白是複雜的分子結構，提供和力量支持身體的關節和器官結締組織。 II型，IX型，和XI型膠原是玻璃體，軟骨和其它結締組織組成。

在這些基因中的任何一個突變削弱的生產，加工，或II型的組件，IX型，或者XI型膠原蛋白。 有缺陷的膠原分子或膠原的減少量的破壞結締組織的發展，導致斯蒂克勒綜合徵的特徵性表現。

不是所有的個體斯蒂克勒綜合徵有突變的已知基因之一。 研究人員認為，在其他基因中的突變也可能導致這種情況，但這些基因還沒有被確定。

了解更多關於COL2A1 ， COL9A1 ， COL9A2 ， COL11A1和COL11A2基因。

I，II和III斯蒂克勒綜合徵（突變引起的，在COL2A1，COL11A1，COL11A2和基因）被繼承在常染色體顯性遺傳模式，這意味著在改變的基因的一個拷貝在每個單元中的類型是足以引起紊亂。 在某些情況下，受影響的人繼承從一個受影響的父母的基因突變。 其他情況下，可能會導致新的基因突變。 出現這些情況的人，斯蒂克勒綜合徵在他們的家庭病史。

馬歇爾綜合徵也有繼承的常染色體顯性遺傳模式。

IV型和V斯蒂克勒綜合徵（從COL9A1或COL9A2基因突變引起的）繼承在常染色體隱性模式。 常染色體隱性遺傳指基因的每個單元中兩個拷貝具有突變。 用一種常染色體隱性病症的個體的父母各攜帶突變基因的一個拷貝，但它們通常不顯示狀態的體徵和症狀。

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 is caused by 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. 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 visible upon 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 can cause impaired vision or blindness in some cases.

Another feature of Stickler syndrome is hearing loss. The degree of hearing loss varies among affected individuals and may become more severe over time.

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) may 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 cause and their characteristic 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 hearing loss. Types IV and V are very rare and have only been diagnosed in a few individuals.

A similar condition 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, which is typically not seen in people with Stickler syndrome. Whether Marshall syndrome represents a variant of Stickler syndrome or a separate disorder is controversial.

Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns.

Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes cause Stickler syndrome types I through V, respectively. Marshall syndrome, which may be a variant of Stickler syndrome, results from mutations in the COL11A1 gene.

The genes listed above are involved in the production of three types of collagen: type II, type IX, and type XI. Collagens are complex molecules that provide structure and strength to connective tissues that support the body's joints and organs. Type II, type IX, and type XI collagen are components of vitreous, cartilage, and other connective tissues.

Mutations in any one of these genes impair the production, processing, or assembly of type II, type IX, or type XI collagen. Defective collagen molecules or reduced amounts of collagen disrupt the development of connective tissues, leading to the characteristic features of Stickler syndrome.

Not all individuals with Stickler syndrome have mutations in one of the known genes. Researchers believe that mutations in other genes may also cause this condition, but those genes have not been identified.

Read more about the COL2A1, COL9A1, COL9A2, COL11A1, and COL11A2 genes.

Types I, II, and III Stickler syndrome (caused by mutations in the COL2A1, COL11A1, and COL11A2genes) are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation from one affected parent. Other cases may result from new mutations. These cases occur in people with no history of Stickler syndrome in their family.

Marshall syndrome also has an autosomal dominant pattern of inheritance.

Types IV and V Stickler syndrome (resulting from mutations in the COL9A1 or COL9A2 gene) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.