Ontology highlight
ABSTRACT:
SUBMITTER: Bayram Y
PROVIDER: S-EPMC4545386 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20150406 9
Oral-facial-digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by a molar tooth sign on cranial MRI. Additional characteristic features include short stature, micrognathia, posteriorly rotated low-set ears, hypertelorism, epicanthal folds, broad nasal tip, tongue hamartoma, upper lip notch, intraoral frenula, cleft lip/palate, and renal a ...[more]