Question: What is (are) Weill-Marchesani syndrome ?
Answer: Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. People with this condition have short stature; short fingers; and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes abnormalities of the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. Occasionally patients with this condition have heart defects. In some families this condition is inherited in an autosomal recessive pattern and caused by mutations in the ADAMTS10 or LTPBP2 genes. Weill-Marchesani syndrome can also have autosomal dominant inheritance, and a FBN1 gene mutation has been found in one family. People with this condition usually need regular eye exams and sometimes need eye surgery.
Source: GARD

Question: What are the symptoms of Weill-Marchesani syndrome ?
Answer: What are the signs and symptoms of Weill-Marchesani syndrome? Variability in symptoms exist among individuals who have Weill-Marchesani syndrome. The features of this condition include proportionate short stature, short fingers (called brachdactyly), and joint stiffness. Eye problems are typically recognized in childhood and include microspherophakia (small spherical lens), severe nearsightedness (myopia), ectopia lentis (abnormal position of the lens), and glaucoma, all of which can affect vision. Occasionally people with Weill-Marchesani syndrome have heart abnormalities such as pulmonary valve stenosis or ductus arteriosus. Most individuals with Weill-Marchesani syndrome have normal intelligence. The Human Phenotype Ontology provides the following list of signs and symptoms for Weill-Marchesani syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the lens 90% Ectopia lentis 90% Glaucoma 90% Myopia 90% Short stature 90% Short toe 90% Limitation of joint mobility 50% Thickened skin 50% Intellectual disability, mild 11% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Abnormality of dental morphology - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Blindness - Brachycephaly - Brachydactyly syndrome - Broad metacarpals - Broad metatarsal - Broad palm - Broad phalanges of the hand - Broad ribs - Broad skull - Cataract - Depressed nasal bridge - Hypoplasia of the maxilla - Joint stiffness - Lumbar hyperlordosis - Misalignment of teeth - Mitral regurgitation - Narrow palate - Patent ductus arteriosus - Proportionate short stature - Pulmonic stenosis - Scoliosis - Severe Myopia - Shallow anterior chamber - Shallow orbits - Spinal canal stenosis - Thin bony cortex - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Weill-Marchesani syndrome ?
Answer: What causes Weill-Marchesani syndrome? Weill-Marchesani syndrome is usually caused by mutations in the ADAMTS10 gene. Two families have been found with mutations in different genes, one with a mutation in FBN1 and one with a mutation in LTBP2.
Source: GARD

Question: How to diagnose Weill-Marchesani syndrome ?
Answer: How is Weill-Marchesani syndrome diagnosed? The diagnosis of Weill-Marchesani syndrome is made on the presence of the characteristic signs and symptoms. Genetic testing can help confirm the diagnosis. The Genetic Testing Registry (GTR) provides information on the genetic tests available for Weill-Marchesani syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Source: GARD

Question: What are the treatments for Weill-Marchesani syndrome ?
Answer: How might Weill-Marchesani syndrome be treated? There is no cure for Weill-Marchesani syndrome, and treatment focuses addressing the symptoms that develop. Individuals with this condition often need a team of medical specialists, including pediatricians, eye specialists (ophthalmologists and optometrists), orthopedists, and cardiologists. Regular eye exams are important for early diagnosis of eye problems. Corrective glasses, visual aids, or eye surgery may be needed to improve vision. Increased pressure within the eye (glaucoma) may be treated with eye drops, laser therapy, surgical removal of the iris or lens. Contraction or dilation of the pupils can cause glaucoma in some people with Weill-Marchesani syndrome. Medications that contract the pupil must be avoided, and medications that dilate the pupils must be given with care. Joint stiffness and bone abnormalities can cause complications if anesthesia is needed for a procedure. It is important to inform a physician of the diagnosis before receiving anesthesia, as it can impact airway management.
Source: GARD