Zadik Barak Levin syndrome

The association of primary hypothyroidism, cleft palate and ectodermal dysplasia has been described in one patient. This girl presents with thyroid agenesis leading to neonatal hypothyroidism, dysmorphic features (post midline cleft palate, hypertelorism, micrognatia, frontal bossing, mild flattening of midface), dermoid cysts of both upper eyelids, and mild signs of ectodermal dysplasia (hypodontia, sparse hairs, dry skin). more...

The association hypothyroidism/ectodermal dysplasia has been described in other syndromes including either agenesis of the corpus callosum with severe mental retardation, or ciliary dyskinesia. The clinical findings suggest an embryonic defect in the mesodermal-ectodermal midline development

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