Megan
Miss Megan was born at 36 weeks with a complete cleft palate, ASD, pulmonary valve stenosis, and severe hearing loss. We consulted a geneticist, and at the age of 3 months, we received her diagnosis, 18q syndrome. She has overcome every obstacle life has thrown her way and has done so with a happy attitude and a smile on her face.
~Angie, Megan’s Mom
18q Syndrome
Chromosome 18q syndrome (also known as Chromosome 18, Monosomy 18q) is a rare chromosomal disorder in which there is a deletion of part of the long arm (q) of chromosome 18. Associated symptoms and findings may vary greatly in range and severity from case to case. However, characteristic features include short stature, intellectual disability, poor muscle tone (hypotonia), malformations of the hands and feet, and abnormalities of the skull and facial region, such as a small head (microcephaly), a “carp-shaped” mouth, deeply set eyes, prominent ears, and/or unusually flat, underdeveloped midfacial regions. Some affected individuals may also have visual abnormalities, hearing impairment, genital malformations, structural heart defects, and/or other physical abnormalities. Chromosome 18q syndrome usually appears to result from spontaneous (de novo) errors very early during embryonic development that occur for unknown reasons.
Artist: Megan Pugh