Thakker-Donnai syndrome

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Thakker-Donnai syndrome

Synonyms: Dysmorphism-multiple structural anomalies syndrome

A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long downward slanting palpebral fissures hypertelorism posteriorly rotated ears broad nasal bridge short nose with a bulbous tip and anteverted nares downturned corners of the mouth) as well as vertebral (occult spina bifida hemivertebrae) brain (ventricular dilatation agenesis of corpus callosum) cardiac (tetralogy of Fallot ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach small intestine spleen and pancreas anal atresia) malformations. There have been no further descriptions in the literature since 1991.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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