Definition:
Kaufman Oculocerebrofacial syndrome is an autosomal recessive disorder. This rare genetic medical condition is characterized by some abnormal looking facial features including small head, narrow face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper and lower eyelids), highly arched palates, and preauricular skin tags. Severely inflicted people show very obvious facial features of a mentally retarded person.
Symptoms and Signs:
Individuals suffering from Kaufman Oculocerebrofacial syndrome have manifestations of one or more of the following features and symptoms suggesting presence of the disorder.
* Long thin hands and feet
* Eye abnormalities including shaky or wiggly eye movement (nystagmus)
* Unusually looking long narrow face
* Small head; those some persons have normally small head, Kaufman Oculocerebrofacial syndrome-inflicted inviduals have abnormally-sized small head
* Serious/Severe mental retardation
* Small jaw or mandible
* High arched and narrow palate
* Flared nostrils or wide opened nostrils
* Delayed physical and mental growth
* Epicanthal folds
* Thin or bare eyebrows
* Flat upper lip groove
Causes:
Kaufman Oculocerebrofacial syndrome is an idiopathic disorder; meaning it has no known cause. It is an autosomal recessive disease.
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