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Definition

An autosomal dominant syndrome characterized by an abnormally increased distance between ocular orbits, and facial features that can resemble craniofrontonasal dysplasia such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Affected individuals have limb, urogenital, umbilical and cardiac defects.

Acronym

TBHS

Synonyms

Brachycephalofrontonasal dysplasia
Teebi hypertelorism syndrome

 
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