Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl