Pallister-Killian Syndrome (PKS)

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OMIM 56 601803 ICD10 via Orphanet 33 Q99.8 UMLS via Orphanet 72 C0265449 Orphanet 58 ORPHA884

MedGen 41 C0265449 SNOMED-CT via HPO 68 103276001 11731003 11934000 123983008 128306009 128602000 128613002 14662005 15188001 17190001 18265008 18735004 18910001 193570009 194021007 203598005 204712000 204731006 204878001 204888000 204912007 204949001 205131007 22006008 22066006 233873004 237364002 237836003 238108007 246545002 246799009 246803005 247053007 248409006 248942000 249310005 249321001 250037002 25273001 253366007 253549006 253789002 275480001 276507005 285384003 289469003 29980002 300127002 301061006 30288003 31216003 313307000 32958008 343087000 385522000 396232000 396347007 39659002 398151007 398152000 405752007 405773007 40700009 414915002 414916001 41581000 45004005 45227007 48251003 48334007 48641006 50956007 52781008 53602002 55033002 5639000 56558005 56731001 57048009 57190000 60573004 68978004 69056000 69914001 70142008 708670007 7305005 78164000 7890003 80825009 83330001 84757009 88565003 90145001 91175000 95427009 95828007 more UMLS 71 C0265449

Genetics Home Reference : ²⁵ 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 pyruvate kinase deficiency of red cells and prekallikrein deficiency, 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, lung and heart, and related phenotypes are delayed skeletal maturation and short neck

NIH Rare Diseases : ⁵² 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 : ⁵⁶ 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)

Wikipedia : ⁷⁴ Pallister-Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an... more...

Clinical features from OMIM:

601803

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	9.6	TBX5
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-109	9.6	GMPS
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-110	9.6	GMPS
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-139	9.6	GMPS
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-15	9.6	GMPS
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.6	GMPS
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-173	9.6	GMPS
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.6	GMPS
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-216	9.6	GMPS
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-34	9.6	GMPS
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.6	GMPS
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-53	9.6	GMPS
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.6	GMPS
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-65	9.6	GMPS
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	9.6	TBX5
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-69	9.6	TBX5
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-84	9.6	GMPS
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-98	9.6	GMPS TBX5

Search Clinical Trials , NIH Clinical Center for Pallister-Killian Syndrome

Search GEO for disease gene expression data for Pallister-Killian Syndrome.