OFD Full Form
What is the full form of OFD?
The full form of OFD is Oral Facial Digital Syndrome. OFD can be termed as a series of diseases that impact a person's several parts, like the oral cavity, i.e., mouth, tongue, teeth, and jaw, the face, i.e., head, eyes, and nose; as well as fingers and toes. Common signs and symptoms include a split in the lip and a tongue with an unusual lobed appearance. On the tongue, noncancerous tumors or nodules may also develop. Affected individuals may have more, missing, or oddly shaped teeth.
OFD can be explained as a class of illnesses distinguished by varying degrees of intellectual disabilities, congenital defects, defects of the hands and feet, and frequent episodic neuromuscular problems.
Classification of OFD
Type I - Papillon-League-Psaume syndrome
Type II - Mohr Syndrome
Type III - Sugarman syndrome
Type IV - Baraitser-Burn syndrome
Type V - Thurston syndrome
Type VI - Varandi syndrome
Type VII - Whelan syndrome
Type VIII - Edwards syndrome
Type IX - Gurrier syndrome
Type X - Figuera syndrome
Type XI - Gabrielli syndrome/ Toriello syndrome
Type XII - Moran-Barrosa syndrome
Type XIII - Degner syndrome
Type XIV - Orofaciodigital syndrome
Signs And Symptoms
The various kinds of OFD manifest with a variety of the below-listed signs and symptoms.
Face and skin: widely spaced eyes (hypertelorism), tiny eyes, eyes that stare in various directions (strabismus), a small jaw, hair loss (alopecia), aberrant nostril structure, broad nose at the base and/or tip, one nostril smaller than the other, and tilted ears
Oral Cavity: Cleft lip, cleft palate, lobed or split tongue, tumors of the tongue, extra or missing teeth, smaller-than-normal jaw, over, under, or lateral bite, and bands of additional tissue (gingival frenulum) connecting the lip to the gums are all examples of conditions that affect the oral cavity.
Fingers and toes: webbed toes and/or fingers; clubfoot; inflexible, bent fingers; extra fingers and/or toes (polydactyly); fused fingers (syndactyly); and exceptionally small fingers (brachydactyly) or clinodactyly.
Cognitive and central nervous systems (CNS): varying degrees of intellectual impairment; abnormalities of the brain; seizures; spastic movements and/or tics; and delayed speech and motor skill development.
Other: decreased development; issues with the heart and kidneys; a depressed chest; susceptibility to respiratory infections
Causes
Chromosomes, which are found in the nucleus of human cells, are responsible for carrying each person's genetic material (DNA). Genes store and transmit genetic data. Gene malfunctions can be brought on by harmful gene alterations (mutations). This may result in genetic disorders.
Gene alterations specific to types I, II, III, IV, V, VI, IX, and XIV have been identified. Other kinds of OFD have no known genetic etiology, and some of the genes have only recently been discovered. Rarely recorded in individuals or families, types X, XI, XII, and XIII lack a known genetic origin. Consequently, they are not known to follow an inheritance mode and are believed to occur by accident.
Inheritance
The X-linked dominant inheritance pattern is seen in oral-facial-digital syndrome type I. One of the two sex chromosomes, the X chromosome, has the gene linked to this disease. The condition can only be brought on in females (who have two X chromosomes) by a mutation in one of the two copies of the gene present in each cell. OFD1 protein is produced normally by certain cells but not by others. The oral-facial-digital syndrome type I symptoms are caused by the general decrease in this protein's level.
The OFD1 protein is completely lost in men due to mutations (since they only have one X chromosome). Because a deficiency in this protein typically results in death relatively early in development, oral-facial-digital syndrome type I affects only a small percentage of male newborns since a loss of this protein is typically fatal very early in development. Although a few survived until early childhood, affected men frequently die before giving birth.
The majority of other kinds of the oral-facial-digital syndrome are inherited in an autosomal recessive manner, which implies that each cell contains a mutated copy of the causal gene. One copy of the defective gene is carried by each parent of a person with an autosomal recessive disorder, although usually neither parent exhibits the disease's signs and symptoms.
Some other Name For The Condition
Dysplasia linquofacialis
OFDS
Oro-facio-digital syndrome
Orodigitofacial dysostosis
Orodigitofacial syndrome
Orofaciodigital syndrome
Other Related Full Forms -
Frequently Asked Questions (FAQs)
The term "oral-facial-digital syndrome" refers to a collection of connected diseases that have an impact on the growth of the digits, the face, and the oral cavity (fingers and toes).
Oral-facial-digital syndrome comes in several different forms, type I being the least common.Type I OFDS are estimated to occur in 1 in 50,000 to 1 in 250,000 births, while type II OFDS occur in 1 in 300,000 births. Only a few individuals or families have reported experiencing certain other forms of OFDS.
One of the most common symptoms is a split in the lip or a tongue with an unusual lobed appearance.
We are aware that our bodies obey the instructions provided by our genes as they grow. When a physical component grows differently from how it should, it's because the gene from which it gets its instructions has altered. The many genes that contribute to the characteristics of all forms of OFDS are still being studied by researchers. Since the gene causing Type I OFD is known, a patient's blood may be examined to discover if the OFD1 gene has changed. Since several characteristics of the OFDS categories overlap, this can aid in ruling out an alternative diagnosis.
There are fourteen subdivisions of OFD.