What does this protein make up or do? frontonasal dysplasia Chapter 12: Chromosome 12 DNA Sequence Chromosome 21855 Name of Protein ALX homeobox 1 12 Name of Gene ALX1 transcription Amino acid sequence mRNA 326 aa translation Cytoplasm A Cell Nucleus What does this protein make up or do? protein is necessary for normal development of the head and face, particularly the formation of the eyes, nose, and mouth, which begins around the fourth week of development. Condition/Disease frontonasal dysplasia

Description of frontonasal dysplasia Symptoms and characteristics Midfacial malformations can be subdivided into two different groups. One group with hypertelorism, this includes FND. The other with hypotelorism (a decreased distance between the eyes), this includes holoprosencephaly (failure of development of the forebrain).[4] In addition, a facial cleft can be classified using the Tessier classification. Nasal: mild anomalies to nostrils that are far apart and a broad nasal root, a notch or cleft of the nose and accessory nasal tags. Facial: telecanthus (an increased distance between the corners of the eye), a median cleft of the upper lip and/or palatum, and a V-shaped hairline. Normal Vision As viewed by a person with glaucoma Pictures used with permission from URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp

Description of Frontonasal dysplasia (cont.) Ocular: narrowed eye slits, almond shaped eyes, epicanthal folds (extra eyelid tissue), epibulbar dermoids (benign tumors of the eye), upper eyelid colombas (full thickness upper eyelid defects), microphtalmos (one or two small eyes), congenital cataract and degeneration of the eye with retinal detachment. Treatment: Because newborns can only breath through their nose, the main goal of postnatal treatment is to establish a proper airway.[19] Primary surgical treatment of FND can already be performed at the age of 6 months, but most surgeons wait for the children to reach the age of 6 to 8 years. This decision is made because then the neurocranium and orbits have developed to 90% of their eventual form. Furthermore, the dental placement in the jaw has been finalized around this age.[19][20 Researcher: CM

References http://www.ncbi.nlm.nih.gov/protein?LinkName=gene_protein&from_uid=8092 http://ghr.nlm.nih.gov/condition/frontonasal-dysplasia http://www.genecards.org/cgi-bin/carddisp.pl?gene=ALX1