Weill-Marchesani syndrome
Encyclopedia
Weill-Marchesani syndrome (also known as Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy
, and GEMSS syndrome) is a rare, genetic disorder
characterized by short stature; an unusually short, broad head (brachycephaly
) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly
); and distinctive eye (ocular
) abnormalities. These typically include unusually small, round lenses of the eyes (spherophakia) that may be prone to dislocating ectopia lentis
as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness myopia
to blindness. Researchers suggest that Weill-Marchesani syndrome may have autosomal recessive
or autosomal dominant inheritance
http://children.webmd.com/weill-marchesani-syndrome.
has been documented to help those with ocular diseases, such as some forms of glaucoma
.
However, long term medical management of glaucoma has not proven to be successful for patients with Weill-Marchesani syndrome. Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder. However, this disorder has no cure, and generally, treatments are given to improve quality of life.
Dystrophy
Dystrophy is any condition of abnormal development, often denoting the degeneration of muscles.-Types:* Muscular dystrophy* Duchenne muscular dystrophy* Becker's muscular dystrophy* Reflex neurovascular dystrophy* Retinal dystrophy* Conal dystrophy...
, and GEMSS syndrome) is a rare, genetic disorder
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
characterized by short stature; an unusually short, broad head (brachycephaly
Brachycephaly
Brachycephaly, also known as flat head syndrome, is a type of cephalic disorder. This can result from premature fusion of the coronal sutures or from external deformation . The coronal suture is the fibrous joint that unites the frontal bone with the two parietal bones of the skull. The parietal...
) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly
Brachydactyly
Brachydactyly , is a medical term which literally means "shortness of the fingers and toes" . The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait...
); and distinctive eye (ocular
Human eye
The human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...
) abnormalities. These typically include unusually small, round lenses of the eyes (spherophakia) that may be prone to dislocating ectopia lentis
Ectopia lentis
Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location. A partial dislocation of a lens is termed lens subluxation or subluxated lens; a complete dislocation of a lens is termed lens luxation or luxated lens.-Ectopia lentis in dogs and cats:Although...
as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness myopia
Myopia
Myopia , "shortsightedness" ) is a refractive defect of the eye in which collimated light produces image focus in front of the retina under conditions of accommodation. In simpler terms, myopia is a condition of the eye where the light that comes in does not directly focus on the retina but in...
to blindness. Researchers suggest that Weill-Marchesani syndrome may have autosomal recessive
Recessive
In genetics, the term "recessive gene" refers to an allele that causes a phenotype that is only seen in a homozygous genotype and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father...
or autosomal dominant inheritance
Inheritance
Inheritance is the practice of passing on property, titles, debts, rights and obligations upon the death of an individual. It has long played an important role in human societies...
http://children.webmd.com/weill-marchesani-syndrome.
Diagnosis
Diagnosis is made when several characteristic clinical signs are observed. There is no single test to confirm the presence of Weill-Marchesani syndrome. Exploring family history or examining other family members may prove helpful in confirming this diagnosis.Treatment and Prognosis
Eye surgerySurgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...
has been documented to help those with ocular diseases, such as some forms of glaucoma
Glaucoma
Glaucoma is an eye disorder in which the optic nerve suffers damage, permanently damaging vision in the affected eye and progressing to complete blindness if untreated. It is often, but not always, associated with increased pressure of the fluid in the eye...
.
However, long term medical management of glaucoma has not proven to be successful for patients with Weill-Marchesani syndrome. Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder. However, this disorder has no cure, and generally, treatments are given to improve quality of life.