what is ODDD
Oculo-Dento-Digital Dysplasia is a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the gene that occurs for no apparent reason (mutation).
symptoms
Major symptoms of Oculo-Dento-Digital Dysplasia are webbing of the forth and firth fingers, and abnormally small transparent part of the eye (microcornea), a slender nose with narrow nostrils, underdevelopment of the outer flaring wall of each nostril (alae), defective enamel and dry hair that grows slowly.
Other symptoms that may be present in some patients with Oculo-Dento- Digital Dysplasia are: a thick lower jaw; an abnormally small head; permanent bending of the fourth and fifth fingers; webbing and/or permanent bending of the second third and fourth toes; abnormally small teeth; eyes that do not look in the same direction (strabismus); a build-up of fluid pressure in the eyeball (glaucoma); a short, narrow opening between the upper and lower eyelids; a vertical fold over the inner corner of the eye; atrophy of the eye; cleft lip and/or palate; and bone abnormalities in the toes and fifth finger.
summary
It is felt that there may be another form of Oculo-Dento-Digital Dysplasia in which the eye and skeletal changes are more severe. There have only been a few cases of this severe form documented and it is thought they may have been inherited as an autosomal recessive trait. The eyes are smaller than normal, slanted, set wide apart and blindness may occur. Skeletal abnormalities include overgrowth of the lower jaw, excessive thickening of bone tissue in the skull, an abnormally wide collarbone, and calcium deposits in the lobes of the ear.
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