Thakker-Donnai syndrome

Thakker-Donnai syndrome is an extremely rare congenital malformation syndrome characterized by a combination of severe birth defects that typically present at birth or prenatally. The condition was first described by Thakker and Donnai in 1987 based on observations in affected siblings. Key clinical features include agenesis or hypoplasia of the corpus callosum (the structure connecting the two brain hemispheres), congenital diaphragmatic hernia, facial dysmorphism, and other midline developmental defects. Affected individuals may also present with cardiac defects, absent olfactory bulbs and tracts, and other central nervous system anomalies. Facial features may include hypertelorism, a broad nasal bridge, and other distinctive characteristics. The syndrome affects multiple body systems, most notably the central nervous system, the respiratory/diaphragmatic system, and craniofacial structures. Due to the severity of the malformations, particularly the combination of diaphragmatic hernia and brain anomalies, the prognosis is generally very poor, with many reported cases resulting in neonatal death or stillbirth. There is no specific curative treatment for Thakker-Donnai syndrome; management is supportive and symptomatic, focusing on surgical correction of the diaphragmatic hernia when feasible and addressing other complications as they arise. Genetic counseling is recommended for affected families. The molecular genetic basis of this condition has not been fully elucidated, and the underlying causative gene(s) remain to be definitively identified.

Common questions about Thakker-Donnai syndrome