Orofaciodigital syndrome type I (OFD I) is a form of ectodermal dysplasia, a group of disorders that affect the outer layer of the developing embryo. This layer, called the embryonic ectoderm, develops into many parts of a baby's body, including the eyes, skin, nails, and hair. In ectodermal dysplasias, these parts do not develop normally.
As implied by the name of the condition, OFD I affects the mouth, face, fingers, and toes. Specifically, symptoms of OFD I may include a cleft palate, an incomplete closure of the roof of the mouth, or a cleft lip, an abnormal groove in the upper lip beneath the nose. Patients also tend to have poorly developed or absent teeth.
OFD I also affects the kidneys as well as the central nervous system, which consists of the brain and spinal cord. Some people with OFD I also have intellectual disabilities.
OFD I is caused by a mutation or defect in the OFD1 gene, located on the X chromosome. Most cases of OFD I are caused by a spontaneous mutation or defect in the egg or sperm cell or in the developing embryo. Fewer cases of OFD I are inherited, or passed down, among family members. When inherited, OFD I appears to follow an X-linked dominant pattern of inheritance. Most cases of OFD I occur in females because males with the defective OFD1 gene do not generally survive past birth.
OFD I is rare. However, it is the most common of the 11 orofaciodigital syndromes. Worldwide incidence of OFD I is estimated to be between one in 50,000 to one in 250,000 live births. It appears to affect all races and ethnicities in equal numbers. However, OFD I affects more females than males.
Alopecia, cleft lip, cleft palate, cystic kidney disease, CXORF5, OFD I, OFD syndrome I, oral-facial-digital syndrome type 1, Papillon-Leage and Psaume syndrome, Papillon-Leage-Psaume syndrome, polycystic kidney disease, polydactyly, porencephaly, prenatal diagnosis, syndactyly.
types of the disease
There are two main types of inherited orofaciodigital syndromes. Type I is inherited as an X-linked dominant trait and is found primarily in females and in males with an XXY genotype. Type II, also known as Mohr syndrome, is inherited as an autosomal recessive trait.