Pallister-Killian Mosaic SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Pallister-Killian Mosaic Syndrome
Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.
Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms.
Pallister-Killian mosaic syndrome appears to be a rare condition, although its exact prevalence is unknown. This disorder may be underdiagnosed because it can be difficult to detect in people with mild signs and symptoms. As a result, most diagnoses are made in children with more severe features of the disorder. More than 150 people with Pallister-Killian mosaic syndrome have been reported in the medical literature.
Pallister-Killian mosaic syndrome is not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Affected individuals have no history of the disorder in their families.
Cohen Children's Northwell Health Physician Partners Medical Genetics
Dr. Ian Daniel Krantz, MD, is a renowned physician specializing in Genetics and Pediatrics. He currently sees patients at Cohen Children's Medical Center (CCMC) and Northwell Health Physician Partners Medical Genetics. Dr. Krantz holds certifications in Clinical Genetics, Cytogenetics, and Pediatrics from the American Board of Medical Genetics and the American Board of Pediatrics, respectively.Dr. Krantz completed his BFA at Concordia University in Montreal and his MD at Sackler School of Medicine (Tel Aviv University). He completed his residency in Medical Genetics at Children's Hospital of Philadelphia and his residency in Pediatrics at New York University Medical Center.With an impressive set of academic and administrative titles, Dr. Krantz serves as the Division Chief of Pediatric Genetics and Genomics at Cohen Children's Medical Center and is the System Vice President for Pediatric Genetics at Northwell Health. Additionally, he holds the position of Professor at the Zucker School of Medicine at Northwell Health.Dr. Krantz is recognized for his clinical expertise in isolated and syndromic forms of congenital birth differences and developmental diagnoses, including syndromic and non-syndromic autism. He has a special interest in the genetics of hearing loss and focused expertise in Cornelia de Lange Syndrome, Pallister-Killian syndrome, Alagille syndrome, CHOPS syndrome, among others.Dr. Krantz's research is dedicated to identifying and characterizing the molecular etiology of syndromic and non-syndromic developmental diagnoses. His research lab has made significant contributions in the field, discovering new disease genes and shedding light on critical molecular pathways involved in human developmental disorders.Driven by his commitment to advancing patient care, Dr. Krantz has been at the forefront of integrating genomic technologies into the clinical setting. He has implemented rapid genome sequencing into the NICU and CICU and established biobanks and biorepositories to further research efforts. Through his work, he aims to understand the impact of complex diagnostic information on clinicians and families involved.With his extensive expertise and dedication to advancing genetic research and patient care, Dr. Krantz continues to make significant contributions to the field of Pediatrics and Genetics. Dr. Krantz is rated as an Elite provider by MediFind in the treatment of Pallister-Killian Mosaic Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Cornelia De Lange Syndrome, Pallister-Killian Mosaic Syndrome, Mosaicism, and KBG Syndrome.
UT Southwestern - Pediatrics
Kosuke Izumi is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Izumi is rated as an Elite provider by MediFind in the treatment of Pallister-Killian Mosaic Syndrome. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Pallister-Killian Mosaic Syndrome, Hypotonia, Mosaicism, and Micrognathia.
ETSU Physicians & Associates- Pediatrics
Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Pallister-Killian Mosaic Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.
Published Date: June 01, 2015
Published By: National Institutes of Health