Meacham syndrome

Meacham Syndrome is a rare congenital disorder characterized by a combination of pulmonary hypoplasia, congenital diaphragmatic hernia, cardiac malformations, and genitourinary abnormalities. It was first described by Meacham et al. in 1981.

Etiology[edit | edit source]

The exact cause of Meacham Syndrome is currently unknown. However, it is believed to be a genetic disorder, possibly inherited in an autosomal recessive manner.

Clinical Features[edit | edit source]

The clinical features of Meacham Syndrome can vary greatly among affected individuals. However, the four primary features are:

Pulmonary Hypoplasia: This is a condition in which the lungs are underdeveloped. This can lead to respiratory distress and other breathing problems.

Congenital Diaphragmatic Hernia: This is a condition in which there is a hole in the diaphragm, allowing the abdominal organs to move into the chest cavity. This can further exacerbate the pulmonary hypoplasia.

Cardiac Malformations: These can include a variety of heart defects, such as ventricular septal defect (VSD), atrial septal defect (ASD), and patent ductus arteriosus (PDA).

Genitourinary Abnormalities: These can include a variety of abnormalities of the genitalia and urinary system, such as cryptorchidism, hypospadias, and renal agenesis.

Diagnosis of Meacham Syndrome is typically based on the presence of the characteristic clinical features. Genetic testing may also be performed to confirm the diagnosis and identify the specific genetic mutation.

Treatment[edit | edit source]

Treatment of Meacham Syndrome is typically supportive and depends on the specific symptoms present. This can include respiratory support for pulmonary hypoplasia, surgical repair of the diaphragmatic hernia, and management of cardiac and genitourinary abnormalities.

Prognosis[edit | edit source]

The prognosis for individuals with Meacham Syndrome is generally poor, due to the severity of the associated abnormalities. However, with appropriate treatment and management, some individuals may survive into adulthood.

NIH genetic and rare disease info[edit source]

NIH info on Meacham syndrome

Meacham syndrome is a rare disease.

Meacham syndrome Resources
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v t e Rare and genetic diseases
Rare diseases - Meacham syndrome
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Also see	Comprehensive list of genetic and rare diseases
Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

v t e Congenital Disorders
General	Congenital anomaly Birth defect Genetic disorder Inborn errors of metabolism
By system	Congenital heart defect Atrial septal defect Ventricular septal defect Tetralogy of Fallot Congenital diaphragmatic hernia Neural tube defect Spina bifida Anencephaly Cleft lip and palate Club foot Congenital hip dislocation
Chromosomal	Down syndrome Turner syndrome Klinefelter syndrome Edwards syndrome Patau syndrome
See also	Pediatric surgery Neonatology Prenatal diagnosis Genetic counseling
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v t e Syndromes
General Syndromes	Marfan Syndrome Turner Syndrome Klinefelter Syndrome Ehlers-Danlos Syndrome Williams Syndrome Prader-Willi Syndrome Angelman Syndrome
Metabolic Syndromes	Metabolic Syndrome Polycystic Ovary Syndrome Cushing's Syndrome Zollinger-Ellison Syndrome
Neurological Syndromes	Guillain-Barré Syndrome Tourette Syndrome Restless Legs Syndrome Charcot-Marie-Tooth Disease Rett Syndrome
Psychiatric Syndromes	Stockholm Syndrome Munchausen Syndrome Munchausen Syndrome by Proxy Asperger Syndrome
Other Syndromes	Irritable Bowel Syndrome Sjögren's Syndrome Stevens-Johnson Syndrome Toxic Shock Syndrome Down Syndrome
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