Meacham syndrome

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Meacham syndrome
Synonyms Meacham syndrome
Pronounce N/A
Specialty N/A
Symptoms Congenital heart defects, ambiguous genitalia, diaphragmatic hernia
Complications Respiratory distress, cardiac complications
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Family history
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis Fraser syndrome, Denys-Drash syndrome
Prevention N/A
Treatment Surgical intervention, supportive care
Medication N/A
Prognosis Variable, depends on severity of symptoms
Frequency Rare
Deaths N/A


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:

Diagnosis[edit | edit source]

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.

See Also[edit | edit source]

NIH genetic and rare disease info[edit source]

Meacham syndrome is a rare disease.






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Contributors: Prab R. Tumpati, MD