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This one is about: Oral Facial Digital Syndrome Type I

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Oral Facial Digital Syndrome Type I

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Below is the definition given of Oral Facial Digital Syndrome, Type 1 (OFD1) found in the OMIM website. I have translated the worst of the medicalese for you and put it right in the text, setting it apart from the text with [brackets]. Therefore, anything enclosed in [  ]'s is from me and my trusty Dorland's. I hope this helps it make some sense for you. If I muddied the waters more than I cleared them, I can try again.

Joanne Green


Oral facial Digital Syndrome, Type 1 was first reported in the English literature by Grolin in 1961. Clefts of the jaw and tongue in the area of the lateral incisors and canines, [three and four teeth to the left and right of the upper front teeth] other malformations of the face and skull, malformation of the hands (specifically syndactyly  [fused fingers], clinodactyly [fingers placed to the side of normal], brachydactyly [abnormally short fingers] and occasionally postaxial polydactyly [extra fingers on the side of the hand opposite the thumb]) and mental retardation are features. Others include small nostrils, lobulated [formed in lobes] tongue with hamartomas [a specific kind of benign tumor], peculiarly irregular and asymmetric clefts of the palate [oddly shaped clefts that are not equal on both sides], aberrant [unusual] hyperplastic [larger than expected] oral frenula [that thingy that tethers the tongue to the bottom of the mouth - or the ones that tethers the lip to the gum], transient multiple milia on pinnae [lots of little white dots that come and go on the outer ear], and spotty alopecia [patches of hairlessness]. The abnormal oral frenula [those are those little tethers in the mucus-y membranes again] appear to lead to the clefting of jaw, tongue and upper lip.  All cases (with the exception mentioned below) are female. The sex ratio in affected sibships probably differs significantly from 1:1 in the direction of 2:1 (f:m) [the families had anywhere from the same number of girls as boys to twice as many girls as boys, but only girls were affected.]. Furthermore, an excessive number of abortions in affected sibships is thought to occur. X-linked dominant inheritance is suggested, with the trait lethal in the hemizygous male [boys without a competing gene to counteract the OFD1 gene]. A male reported as presumed OFD I syndrome (Kushnick et al., 1963) probably had OFD II (252100), or the XXY Klinefelter syndrome. [In other 
words, they thought they found a boy with this, but they think they were wrong] Doege et al. (1964) reported a kindred [bunch of genetically related people] with 15 affected females. Chromosome studies of 8 of them did not uncover any abnormality. [This means that, while they can assume by way of pattern of expression that there is an inheritance pattern, the chromosomes still look normal by all the tests we have available to us] Wahrman et al. (1966) described the condition in an XXY male. [A boy who most likely WOULD have the necessary competing gene, because he had two X chromosomes] This greatly strengthens the idea that inheritance is male-lethal X-linked dominant. Incontinentia pigmenti (308300) and focal dermal hypoplasia (305600) [those are two other conditions that have the same kind of x-linked lethal expression that they are trying to describe here] have the same inheritance. Melnick and Shields (1975) suggested that there is some female lethality due to lyonization [randomly inactivated X chromosomes] in heterozygotes [people who have both chromosomes present].

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