a brief presentation to help you get the idea of what is the Oral facial-digital syndrome and the genetics behind it

1. ORAL-FACIAL-DIGITAL
SYNDROME

2. Is the name used for at least 10
genetically distinct entities
Common features to all types: the
phenotype
The most common type of OFDS-
Type 1
Incidence- 1:50,000
WHAT IS IT?

3.  Genetics
 Lethal X linked dominant for man, except for klinefelter syndrome
 Male affected embryos are aborted
 Occurs solely in females
 Mutation in gene located at Xp22
 75%- sporadic cases, the rest are familial
 Affected mother has 50% risk to have affected girls
OFDS TYPE 1

5. Oral facial digital anomalies
Lobulation of the tongue (2 or more)
Multiple hypoplastic intraoral franula
Median cleft lip/palate
Broad root of nose
Hypoplastic maxilla
Flat midface
Absence of lateral incisors
Clinodactily, brachydactily, syndactily
PHENOTYPE

6. ORAL FACIAL DIGITAL ANOMALIES

7.  Polycystic kidney during adulthood
 Alopecia
 Mental retardation
 Hydrocephaly
 Seizures
 Hypothalamic and tongue hamartoma
SUPPLEMENTARY PHENOTYPES

8. Presence of classical symptoms
Polycystic kidney: testing of renal function,
imaging tests
Molecular diagnosis + gene testing: female
patients
Prenatal diagnosis
Pregnant women with the disease
Main aim: identify the sex of the embryo
Gene testing: for female fetuses
DIAGNOSIS

9. No gene therapy
Surgical correction of OFD
anomalies
Dialysis and kidney transplant
Dental care
Special schooling
TRATMENT