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PKS
MCID: PLL008
MIFTS: 41
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Pallister-Killian Syndrome (PKS)
Categories:
Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Pallister-Killian Syndrome:
Characteristics:Orphanet epidemiological data:58
tetrasomy 12p
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
somatic mosaicism
Miscellaneous:
significant number of patients are stillborn or die in neonatal period birth incidence approximately 5.1 per million live births HPO:31Classifications:
ICD10:
33
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis |
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MedlinePlus Genetics :
43
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.Most babies with Pallister-Killian mosaic syndrome are born with significant hypotonia, which can cause difficulty breathing and problems with feeding. Hypotonia also interferes with the normal development of motor skills such as sitting, standing, and walking. About 30 percent of affected individuals are ultimately able to walk without assistance. Additional developmental delays result from intellectual disability, which is usually severe to profound. Speech is often limited or absent in people with this condition.Pallister-Killian mosaic syndrome is associated with a distinctive facial appearance that is often described as "coarse." Characteristic facial features include a high, rounded forehead; a broad nasal bridge; a short nose; widely spaced eyes; low-set ears; rounded cheeks; and a wide mouth with a thin upper lip and a large tongue. Some affected children are born with an opening in the roof of the mouth (cleft palate) or a high arched palate.Most children with Pallister-Killian mosaic syndrome have sparse hair on their heads, particularly around the temples. These areas may fill in as affected children get older. Many affected individuals also have streaks or patches of skin that are darker or lighter than the surrounding skin. These skin changes can occur anywhere on the body, and they may be apparent at birth or occur later in life.Additional features of Pallister-Killian mosaic syndrome can include hearing loss, vision impairment, seizures, extra nipples, genital abnormalities, and heart defects. Affected individuals may also have skeletal abnormalities such as extra fingers and/or toes, large big toes (halluces), and unusually short arms and legs. About 40 percent of affected infants are born with a congenital diaphragmatic hernia, which is a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm). This potentially serious birth defect allows the stomach and intestines to move into the chest, where they can crowd the developing heart and lungs.The signs and symptoms of Pallister-Killian mosaic syndrome vary, although most people with this disorder have severe to profound intellectual disability and other serious health problems. The most severe cases involve birth defects that are life-threatening in early infancy. However, several affected people have had milder features, including mild intellectual disability and less noticeable physical abnormalities.
MalaCards based summary : Pallister-Killian Syndrome, also known as isochromosome 12p syndrome, is related to hypotonia and alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures An important gene associated with Pallister-Killian Syndrome is ARAF (A-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Glucose / Energy Metabolism and mTOR signaling pathway (KEGG). Affiliated tissues include skin, heart and tongue, and related phenotypes are ptosis and short neck GARD : 20 Pallister-Killian mosaic syndrome is a multi-system disorder that 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. The signs and symptoms of Pallister-Killian mosaic syndrome can vary, although most documented cases of people with the syndrome have severe to profound intellectual disability and other serious health problems. Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome 12 called isochromosome 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. Cells normally have two copies of each chromosome, one inherited from each parent. In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. These cells have a total of four copies of all the genes on the p arm of chromosome 12. The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder. Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. Treatment depends upon the specific symptoms present in each individual. Treating medical and developmental problems early can help to optimize outcome. OMIM® : 57 Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987). (601803) (Updated 05-Mar-2021) Wikipedia : 74 Pallister-Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an... more... |
Human phenotypes related to Pallister-Killian Syndrome:58 31 (show top 50) (show all 96)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:601803 (Updated 05-Mar-2021)UMLS symptoms related to Pallister-Killian Syndrome:seizures GenomeRNAi Phenotypes related to Pallister-Killian Syndrome according to GeneCards Suite gene sharing:26 (show all 18)
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Genetic tests related to Pallister-Killian Syndrome:
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MalaCards organs/tissues related to Pallister-Killian Syndrome:40
Skin,
Heart,
Tongue,
Uterus,
Lung,
Brain,
Pineal
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Articles related to Pallister-Killian Syndrome:(show top 50) (show all 211)
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Genes related to Pallister-Killian Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Pallister-Killian Syndrome.
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