obsolete Matthew-Wood syndrome

Matthew-Wood Syndrome: A Rare Genetic Disorder

Matthew-Wood syndrome, also known as Matthew-Wood disease, was a rare genetic disorder characterized by severe microphthalmia or anophthalmia (absence or underdevelopment of one or both eyes), and pulmonary hypoplasia or aplasia (underdeveloped or absent lungs). This condition was often associated with other congenital malformations, such as diaphragmatic defects, cardiac abnormalities, and intellectual disability.

Key Features

• Severe microphthalmia or anophthalmia
• Pulmonary hypoplasia or aplasia
• Diaphragmatic defects (e.g., congenital diaphragmatic hernia)
• Cardiac malformations (e.g., patent ductus arteriosus, septal and valvular defects)
• Intellectual disability in surviving patients

Causes

Matthew-Wood syndrome was caused by truncating mutations in the retinol-binding protein receptor gene STRA6 [9]. This genetic mutation led to the development of severe eye and lung abnormalities.

References

• The phenotypic description of Matthew-Wood syndrome is based on an analysis of the biomedical literature, including references 1, 4, 7, 12, and 15.
• A study by Golzio et al. (2007) identified truncating mutations in the STRA6 gene as the cause of Matthew-Wood syndrome [9].
• The Orphanet database provides a detailed description of Matthew-Wood syndrome, including its clinical features and genetic causes [11].

I couldn't find any information on "Matthew-Wood syndrome". It's possible that it's a rare or outdated medical condition, or it may be a misspelling or variation of another name.

However, I did find some information on "Matthew-Wood syndrome" being an obsolete term for a condition now known as Microphthalmia, syndromic 9 (MCOPS9), also referred to as Spear syndrome. This condition is characterized by:

• Anophthalmia (absence or underdevelopment of one or both eyes)
• Pulmonary hypoplasia or aplasia (underdeveloped or absent lungs)
• Diaphragmatic hernia
• Cardiac defects

If you're looking for information on a different condition, please let me know and I'll do my best to assist you.

Based on the provided context, it appears that Matthew-Wood syndrome is a rare genetic disorder characterized by severe ocular and respiratory abnormalities.

Diagnostic tests for Matthew-Wood syndrome are not explicitly mentioned in the search results, but we can infer some information about the clinical features of this condition. According to points 1, 7, and 15, the main characteristics

Treatment Options for Matthew-Wood Syndrome

Matthew-Wood syndrome, also known as Microphthalmia, syndrome 9 (MCOPS9), Spear syndrome, or pulmonary hypoplasia, diaphragmatic hernia, anophthalmia and cardiac defects syndrome (PDAC syndrome), is a rare genetic disorder characterized by ocular, respiratory, and cardiac abnormalities. While there are no specific treatments for Matthew-Wood syndrome, various medications may be used to manage its symptoms.

• Pulmonary Hypoplasia/Aplasia: Patients with Matthew-Wood syndrome often experience pulmonary hypoplasia or aplasia, which can lead to breathing difficulties. In such cases, supplemental oxygen therapy may be prescribed to help alleviate respiratory distress.
• Anophthalmia/Microphthalmia: Individuals with Matthew-Wood syndrome may have anophthalmia (absence of one or both eyes) or microphthalmia (small eye). While there is no cure for these conditions, supportive care and prosthetic devices can improve the quality of life.

Note on Obsolete Treatment

It appears that there are limited to no specific treatments mentioned in the search results for Matthew-Wood syndrome. However, it's essential to note that medical research and treatment options evolve over time. The information provided is based on the available context, which may not reflect the most recent or up-to-date information.

Current Research and Development

Recent studies have focused on developing novel treatments for rare genetic disorders like Matthew-Wood syndrome. For instance, a study published in 2023 explored the efficacy of omaveloxolone, a new drug approved by the FDA for treating Friedreich's ataxia (FA), which shares some similarities with Matthew-Wood syndrome [10]. Another study investigated amifampridine phosphate as a potential treatment for congenital myasthenic syndromes [11].

Community Support and Resources

For individuals and families affected by Matthew-Wood syndrome, community support groups can provide valuable assistance in navigating the complexities of this rare condition. These organizations offer information on available resources, including medical supplies and treatment options [13].

Matthew-Wood syndrome, also known as Spear syndrome, is a rare genetic disorder characterized by severe eye malformations and pulmonary hypoplasia. However, it appears that the condition has been largely replaced or reclassified under other syndromes.

According to search results [8], Matthew-Wood syndrome was previously considered in the differential diagnosis of various conditions, including:

• Donnai-Barrow syndrome
• Simpson-Golabi-Behmel syndrome
• Craniofrontonasal syndrome
• Cornelia de Lange syndrome

These conditions share some similar clinical features with Matthew-Wood syndrome, such as eye malformations and developmental abnormalities. However, it is essential to note that the diagnostic criteria for these syndromes have evolved over time, and Matthew-Wood syndrome may no longer be a distinct entity.

In fact, search results [3] suggest that STRA6 gene mutations, previously associated with Matthew-Wood syndrome, are now implicated in heterogeneous postnatal associations of clinical anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and other conditions. This implies that the original Matthew-Wood syndrome may have been a collection of symptoms rather than a distinct genetic disorder.

Therefore, when considering differential diagnosis for these conditions, it is crucial to consult up-to-date medical literature and consider the current understanding of STRA6 gene mutations and their associated phenotypes [3][7].

References:

[3] by C Golzio · 2007 · Cited by 214 — STRA6 gene mutations were recently implicated in heterogeneous postnatal associations of clinical anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and ... [7] by C Golzio · Cited by 214 — The severe eye malformations subsequent to STRA6 mutations are always observed in association with at least one other sign, among those of ... [8] GARD 19. Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia ...