Albums and FRAME Projects tagged with "cleft palate"
Smith Lemli Opitz Syndrome (SLOS) is an autosomal recessive disorder, caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene [...]
Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face. Craniofacial abnormalities [...]
Trisomy 13, also known as Patau Syndrome, occurs when there is an extra copy of chromosome 13.
Trisomy 18, also known as Edward Syndrome, occurs when there is an extra copy of chromosome 18. Trisomy 18 can [...]
Miller Syndrome (also known as postaxial acrofacial dysostosis) is an extremely rare genetic condition that involves multiple physical anomalies. The [...]
Moebius syndrome is a neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th [...]
Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of [...]
CdLS is not a “one size fits all” condition. An individual may have many of the following traits, or only [...]
Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and [...]
Common features associated with 22q11.2 deletion syndrome include cleft palate, abnormalities of the heart, developmental delays and learning disabilities, psychiatric [...]
Chromosome 18 includes 18p-, 18q-, Ring 18, Tetrasomy 18p, and Trisomy 18. 18p can cause heart defects and holoprosencephaly, a [...]
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal disorder caused by a missing piece (partial deletion or monosomy) of the [...]
Cleidocranial dysplasia is a rare genetic condition that affects teeth and bones, such as the skull, face, spine, collarbones and [...]
Common features associated with 22q11.2 deletion syndrome include cleft palate, abnormalities of the heart, developmental delays and learning disabilities, mental [...]