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8 Cards in this Set
- Front
- Back
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Holoprosencephaly
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occurs when prosencephalon (FOREBRAIN) fails to develop into two hemispheres. The most severe of the facial defects include cyclopia and a missing nose or a nose in the form of proboscis located above the eye.
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Frontonasal dysplasia
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median cleft face syndrome
tip of the nose is missing nose maybe separated vertically into two parts. dysplasia can be caused by mutations in EFNB1 |
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Van Der Would syndrome
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autosomal dominant disorder
mutation in interferon regulatory Factor 6. MOST COMMON syndromic orofacial clefting. cleft lip/palate hypodontia pits of the lower lip. |
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Pierre Robin
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Cleft deformation sequence
hypoplasia of the mandible due to no tongue displacement and posterior cleft palate. Airway obstruction during the first four weeks of life results in 30 percent mortality rate. |
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Hemifacial microsomia
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example of disruption.
result is one half of the face, mandible has a small body. because it does not grow normally. intelligence is normal. sporadic or autosomal dominance. |
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Treacher Collins
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autosomal dominant inheritance.
abnormal external ear, narrow external auditory canal, bilateral conductive loss, lateral and downward sloping of the palpebral fissure, colobomas of lower eyelids. Treacher collins is caused by a mutation in Tcof1/Treacle gene. |
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Function of Tcof1
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encodes a nuclear phosphorpotein that is important for ribosome biogensis and that is required for NCC generation, proliferation, and migration.
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Cornelia de Lang Syndrome
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small head size, thick eyebro long eyelashs, a short upturned nose and thin downturned lips, a long philtrum, and low set years. Associated with three loci
Cdl1 (componenet of cohesion complex) Cdl2 (x-linked) cdl 3(chromsome 10) |
