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Синдром пірамідальних молярів-аномальної верхньої губи

ORPHA:2561· ICD-10 K00.2· Pyramidal molars-abnormal upper lip syndrome

Визначення(English summary)

A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Childhood