Oral-Facial-Digital Syndrome Type II (Mohr Syndrome): Clinical and Genetic Manifestations

Abstract

The oral-facial-digital syndromes (OFDS) represent a heterogenous group of disorders characterized by oral malformation, facial anomalies, and digital anomalies. Type II OFDS was reported by Mohr in 1941. Mohr syndrome is an autosomal recessive inherited disease characterized by median cleft lip, poly lobed tongue, absence of medial incisors, and polydactyly of hands and feet. Some other different expressive types of OFDS cases have been reported, and identified with 11 different clinical entities up to the present. Until now, only three cases of OFDS II in Japanese patients have been detected except for our patient. At this time, we observed a Japanese patient of Mohr syndrome with median cleft lip and tongue, hypertrophied frenula, absence of left medial incisor, and bilateral bifidity of great toe. Lip and tongue plasty was performed at 7 months after birth and toe plasty was done at 11 months with good results.

Medial tongue cleft associated with intraoral hamartoma—case report and review of literature

“…Median tongue clefts are reported in the literature to be associated with median lip clefts or median mandibular clefts 5,6,8,[10][11][12]14,16,17,19 . Median tongue or lip clefts are described also as being associated with orofacial digital syndromes Type I 8,16,17 , Type II (Mohr syndrome) 8,10,12,14 , Type IV (Mohr-Majewski syndrome) 5,11,14 and Type VI (Varadi syndrome) 14,19 .…”

Oral–Facial–Digital Syndrome type VI with self mutilations

“…However, our patient had sib death with absent lower jaw and congenital heart. Because of the variable clinical expression, even intrafamilial, the attribution of the correct diagnosis among the several forms of OFDS is often difficult [35]. Considering the broad spectrum of anomalies of various organs, it has been proposed that OFD syndromes belong to the group of ciliopathies [4].…”

Clinical–Pathological Conference: Case 5

“…Review of the English literature back to 1950 revealed 58 reported cases of tongue hamartomas, including the largest review of 18 cases [4][5][6][7][8][9]. Four of the patients had In 12 cases, detailed information regarding age, gender, specific location on the tongue, and microscopic description of the hamartomas was lacking [6].…”

“…Most cases of tongue hamartomas are not associated with any systemic condition, but 18 cases in the literature were documented to occur in association with Oral-Facial Digital Syndrome (OFDS) [4,[6][7][8]10], and one in association with Ectrodactyly-Ectodermal Dysplasia-Cleft Lip and Palate Syndrome (EECS) [9]. No cases of tongue hamartomas in Apert syndrome were documented.…”