CHARGE Syndrome (CHD7)
Interviews with Meg Hafner, a St. Louis genetic counselor and special advisor for the CHARGE Syndrome Foundation. She h... Read More
Interviews with Meg Hafner, a St. Louis genetic counselor and special advisor for the CHARGE Syndrome Foundation. She h... Read More
Interviews Dr. Oliver Adunka, an otolaryngologist specializing in Neurotology. that deals with disorders of the ear, hea... Read More
What is Angelman Syndrome? In 1965, English physician Dr. Harry Angelman first described three children with signs that... Read More
What is Charcot Marie Tooth Disease (CMT)? Charcot-Marie-Tooth disease (CMT) is one of a group of disorders that cause d... Read More
Interviewees Lauren Giannetti Sferrazza is a certified genetic counselor who works at Myriad Genetics as a Regional Medi... Read More
What is 5p Minus Syndrome? In 1963, a French physician, Dr. Lejeune first described 5p- syndrome. He originally named t... Read More
TANGO2 Disease Dr. Seema Lalani, a clinical geneticist at Texas Children's Hospital, and a faculty member in the Departm... Read More
What is Duchenne Muscular Dystrophy? Duchenne muscular dystrophy (DMD) is the most common childhood onset form of muscul... Read More
What Is Fragile X Syndrome? Fragile X Syndrome (FXS) is a genetic condition that causes several developmental problems i... Read More
Disclaimer: One of the sources cited in this article is Dr. Mauricio De Castro, Associate Director for the Air Force Med... Read More
¿Qué es el síndrome de deleción 22q? El síndrome de deleción 22q es el síndrome de deleción cromosómica más común, y es... Read More
What is 22q Deletion Syndrome? 22q Deletion Syndrome is the most common chromosome deletion syndrome, and is roughly as... Read More
¿Qué es el síndrome de Ehlers-Danlos? El síndrome de Ehlers-Danlos (SED) es un trastorno genético del tejido conectivo q... Read More
La enfermedad de Huntington (EH) es un trastorno genético progresivo y poco común, en el que las células nerviosas, en c... Read More
What is Ehlers-Danlos Syndrome? Ehlers-Danlos syndrome (EDS) is a genetic connective tissue disorder of varying types th... Read More
Huntington's disease (HD) is a rare progressive genetic disorder in which nerve cells in certain parts of the brain dege... Read More
El Síndrome de Lynch (SdL) es una condición hereditaria que aumenta de manera significativa el riesgo de desarrollar muc... Read More
Lynch Syndrome is a hereditary (genetic) cancer predisposition syndrome that significantly increases the risk of many ty... Read More
¿Qué es la enfermedad de Fabry? La enfermedad de Fabry es un trastorno metabólico en múltiples órganos que es hereditari... Read More
¿Qué es la neurofibromatosis? La neurofibromatosis (NF) es un trastorno genético que afecta el sistema nervioso. Puede a... Read More
¿Qué es la trisomía 13 (síndrome de Patau)? La trisomía 13 es una condición cromosómica que produce discapacidad intelec... Read More
What is Neurofibromatosis? Neurofibromatosis (NF) is a genetic disorder that affects the nervous system. It can affect t... Read More
Los 5 Puntos Más Importantes El síndrome de Klinefelter es una condición genética que ocurre en niños varones que nacen... Read More
What is Trisomy 13 (Patau Syndrome)? Trisomy 13 is a chromosomal condition that results in severe intellectual disabili... Read More
Klinefelter syndrome Klinefelter syndrome was first identified in the 1940s at Johns Hopkins in Baltimore by endocrinolo... Read More
What Is Fabry Disease? Fabry disease is an inherited multi-organ metabolic disorder that is caused by a build-up of a t... Read More
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