Question 1

What is Matthew-Wood syndrome?

Accepted Answer

Matthew-Wood syndrome is a rare condition that mainly affects the eyes and lungs. People with this condition may have very small eyes (severe microphthalmia) or a complete absence of eyes (anophthalmia), along with underdevelopment (hypoplasia) or absence (aplasia) of the lungs.

This syndrome is defined by its distinctive features, and its name is also associated with several similar terms. The involvement of the eyes and lungs makes the condition particularly notable. The syndrome has been linked to mutations in the STRA6 gene, which plays a role in development.

Question 2

What are the symptoms of Matthew-Wood syndrome?

Accepted Answer

The main symptoms of Matthew-Wood syndrome include severe eye malformations, such as anophthalmia or microphthalmia, and problems with lung development, such as pulmonary hypoplasia or aplasia. Some reports suggest there may also be variations in other body structures, but detailed information on additional symptoms is limited.

Question 3

What causes Matthew-Wood syndrome?

Accepted Answer

Matthew-Wood syndrome is caused by changes in the STRA6 gene. This genetic change affects the development of critical organs, particularly the eyes and lungs. The inheritance pattern and precise risk factors have not been fully detailed in the available information. Associated genes include STRA6.

Question 4

How is Matthew-Wood syndrome inherited?

Accepted Answer

Matthew-Wood syndrome follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

Question 5

How rare is Matthew-Wood syndrome?

Accepted Answer

Matthew-Wood syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is Matthew-Wood syndrome diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for Matthew-Wood syndrome?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 8

What are the potential complications of Matthew-Wood syndrome?

Accepted Answer

Matthew-Wood syndrome can lead to serious complications due to its effects on the eyes and lungs. Severe eye malformations, like anophthalmia or microphthalmia, can impact vision and overall development. Lung issues, such as pulmonary hypoplasia or aplasia, may cause breathing difficulties and can be life-threatening.

Question 9

How does Matthew-Wood syndrome affect daily life for patients?

Accepted Answer

Living with Matthew-Wood syndrome can be challenging due to its impact on vision and breathing. Patients may need special support for their eye conditions and may require assistance with breathing or lung function. Families often need to adapt daily activities to ensure safety and comfort for their loved ones.

Question 10

What is the life expectancy for someone with Matthew-Wood syndrome?

Accepted Answer

Information about life expectancy for individuals with Matthew-Wood syndrome is currently limited. The severity of lung development issues can significantly affect health and survival. It is important for families to work closely with healthcare providers to understand the specific needs and prognosis for their loved one.

Question 11

Are there any specialists that should be involved in the care of someone with Matthew-Wood syndrome?

Accepted Answer

Yes, individuals with Matthew-Wood syndrome may benefit from a team of specialists. Eye doctors (ophthalmologists) can help manage vision issues, while lung specialists (pulmonologists) can address breathing problems. A geneticist may also be involved to provide insights into the genetic aspects of the syndrome.

Organ System	Phenotype Count	Example Features
Lungs and breathing	5	Pulmonary hypoplasia, Agenesis of pulmonary vessels, Pulmonary artery atresia
Kidneys and urinary system	4	Renal hypoplasia, Horseshoe kidney, Renal malrotation
Growth and development	3	Severe short stature, Short stature, Intrauterine growth retardation
Heart and blood vessels	3	Ventricular septal defect, Right aortic arch with mirror image branching, Atrial septal defect
Brain and nerves	2	Profound intellectual disability, Profound global developmental delay
Muscles	2	Low muscle tone (hypotonia), Generalized hypotonia
Digestive system	2	Hypoplastic spleen, Multilobulated spleen
Pregnancy and birth	1	Congenital diaphragmatic hernia

Research Type	Count	% of Total
Research summaries	32	71%
Laboratory research	5	11%
Patient case studies	3	7%
Testing and diagnosis research	2	4%
Disease patterns and progression	2	4%
Other research	1	2%

Kisho

Matthew-Wood syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Matthew-Wood syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Matthew-Wood syndrome?

What are the symptoms of Matthew-Wood syndrome?

What causes Matthew-Wood syndrome?

How is Matthew-Wood syndrome inherited?

How rare is Matthew-Wood syndrome?

How is Matthew-Wood syndrome diagnosed?

Are there treatments for Matthew-Wood syndrome?

What are the potential complications of Matthew-Wood syndrome?

How does Matthew-Wood syndrome affect daily life for patients?

What is the life expectancy for someone with Matthew-Wood syndrome?

Are there any specialists that should be involved in the care of someone with Matthew-Wood syndrome?