Oral-facial-digital syndrome (OFD) is a form of ectodermal dysplasia, which is affecting the development of the skin, nails, hair, eyes, face, fingers, toes and oral cavity. Central nervous system, cardiovascular, renal, and cutaneous abnormalities have been linked to this disorder.1,2 In addition, depressed mental capacity, speech, learning disabilities, and seizures have been reported that directly correlate with the degree of central nervous system involvement.1,2. Some cases reported malformation of the stapes leading to conduction deafness. Which may also, play a role in developmental and intellectual deficiencies. 3
Thirteen different subtypes of OFD 4-5 are reported in the literature. OFD type1 has the highest incidence when compared with the other subtypes, the incidence of this condition ranges between 1/50,000-250,000 live births 6-10. And it affects all races and ethnicities in equal numbers. 1, 4, 10 according to the literature, approximately 75% of cases with OFD 1 are sporadic (16) and 25% are hereditary and it is transmitted as an X-linked dominant condition, with prenatal mortality in homozygous males. 7Conversely, males have been reported in the literature with this disorder with the XXY genome. 4, 12, 13
As the naming indicates it is characterized by affecting the face, oral cavity, and the digits. The face of an affected individuals presents with asymmetry, frontal bossing, hypertelorism, a wide nose with a broad and flat nasal bridge and different size nostrils, hypoplasia of the malar bones, cleft or pseudo-cleft lip, and vanishing milia on the face and ears with a low-set ears, and dry brittle hair with zones of alopecia.
Abnormalities of the oral cavity that occur in many types of the oral-facial-digital syndrome include cleft or highly arched palates, cleft or an unusual lobed shape tongue, growth of noncancerous tumors on the tongue that represent hamartoma. Almost all people with the oral-facial-digital syndrome have hyperplastic frenula that abnormally attach the lip to the gums, in addition to alveolar ridge notching and thickening. Furthermore, teeth present a wide range of variations, such as; supernumerary teeth, missing teeth, impaction weather with or without retained deciduous teeth and enamel dysplasia.
Gnathical variations which may present in these patients are anterior open bite, and maxillary or mandibular micrognathia. 4. Digital malformations affect hands more frequently than feet and include syndactyly (fusion of digits), brachydactyly (shortened digits), clinodactyly (curved digits), and polydactyly (extra digits). ? +17f