frontorhiny
Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.
MONDO:0016643
frontonasal dysplasia
is_a
ALX3-related frontonasal dysplasia
exact
FND1
related
frontonasal dysplasia 1
related
frontonasal dysplasia type 1
exact
frontorhiny
exact
isolated median cleft face syndrome
exact
isolated median cleft syndrome
related