Disease - Teebi hypertelorism syndrome
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
Hypertelorism, Teebi type
Hypertelorism, Teebi type
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