Frontorhiny

Orpha code: 391474OMIM code: 136760

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
ALX3-related frontonasal dysplasia
Dysplazja czołowo-nosowa zależna od ALX3
Izolowany zespół rozszczepu pośrodkowego
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
ORPHA code
391474
OMIM code
136760
ICD10 code
Q75.8
ICD11 code
-

No additional description.

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