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Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Kabuki syndrome is a congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance.
K(lysine) acetyltransferase 6A (KAT6A), is an enzyme that, in humans, is encoded by the KAT6A gene. This gene is located on human chromosome 8, band 8p11.21.
Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome. It is characterized by facial clefting, a caudal appendage, growth deficiency, intellectual and developmental disability, and abnormalities of the renal system (kidneys) and the male genitalia. Abnormalities of the heart, and other skeletal malformations may also be present. The syndrome was initially described by Georges Malpuech and associates in 1983. It is thought to be genetically related to Juberg-Hayward syndrome. Malpuech syndrome has also been considered as part of a spectrum of congenital genetic disorders associated with similar facial, urogenital and skeletal anomalies. Termed "3MC syndrome", this proposed spectrum includes Malpuech, Michels and Mingarelli-Carnevale (OSA) syndromes. Mutations in the COLLEC11 and MASP1 genes are believed to be a cause of these syndromes. The incidence of Malpuech syndrome is unknown. The pattern of inheritance is autosomal recessive, which means a defective (mutated) gene associated with the syndrome is located on an autosome, and the syndrome occurs when two copies of this defective gene are inherited.
Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Additional symptoms include microcephaly, severe psychomotor disability. In 2012, it was shown that mutations in the gene KAT6B cause the syndrome. Genitopatellar syndrome (GTPTS) can be caused by heterozygous mutation in the KAT6B gene on chromosome 10q22. The Say-Barber-Biesecker variant of Ohdo syndrome, which has many overlapping features with GTPTS, can also be caused by heterozygous mutation in the KAT6B gene.
Kohlschütter-Tönz syndrome (KTS), also called amelo-cerebro-hypohidrotic syndrome, is a rare inherited syndrome characterized by epilepsy, psychomotor delay or regression, intellectual disability, and yellow teeth caused by amelogenesis imperfecta. It is a type A ectodermal dysplasia.
Xia-Gibbs Syndrome, is genetic disorder caused by a heterozygous mutation in the AHDC1 gene on chromosome 1p36.
Fryns-Aftimos syndrome is a rare chromosomal condition and is associated with pachygyria, severe mental retardation, epilepsy and characteristic facial features. This syndrome is a malformation syndrome, characterized by numerous facial dysmorphias not limited to hypertelorism, iris or retinal coloboma, cleft lip, and congenital heart defects. This syndrome has been seen in 30 unrelated people. Characterized by a de novo mutation located on chromosome 7p22, there is typically no family history prior to onset. The severity of the disorder can be determined by the size of the deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome. Confirming a diagnosis of Fryns-Aftimos syndrome typically consists of serial single-gene testing or multigene panel of genes of interest or exome sequencing.
ZTTK syndrome is a rare disease caused in humans by a genetic mutation of the SON gene. Common symptoms include developmental delay and sometimes moderate to several intellectual disability.
First being described and identified in 1985, Wieacker-Wolff syndrome is a rare, slowly progressive, genetic disorder present at birth and characterized by deformities of the joints of the feet, muscle degeneration, mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Wieacker syndrome is inherited as an X-linked recessive trait.
Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia, eye abnormalities and microcephaly. The intestinal atresia is of the "apple-peel" type, in which the remaining intestine is twisted around its main artery. The front third of the eye is typically underdeveloped, and there is usually moderate developmental delay. Less common features include an atrial septal defect, increased muscle tone or skeletal abnormalities. Physical features may include short stature, large, low-set ears, a small jaw, a large mouth, epicanthic folds, or fine, sparse hair.
White–Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder that affects different systems of the human body. It is mainly characterized by developmental delay, intellectual disability, craniofacial abnormalities and commonly features of autism spectrum disorder (ASD).
Okamoto syndrome (OS), also known as Au–Kline syndrome (AKS), is a very rare autosomal dominant genetic condition characterised by congenital hydronephrosis, low muscle tone, heart defects, intellectual disability and characteristic facial features. Those affected often have neurological and skeletal abnormalities, as well as frequent urinary tract infections. Language and walking are usually delayed. Facial features include prominent, downturned ears, an open, downturned mouth and drooping eyelids (ptosis).
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features. Those affected typically have motor and language delays, low muscle tone and gastrointestinal dysmotility. Facial features include a wide nasal bridge, widely-spaced eyes, prominent, low-set ears, a flat nose tip and a small mouth. Less common features include congenital spinal abnormalities, hearing loss or seizures.
Early-onset parkinsonism-intellectual disability syndrome is a very rare genetic disorder which is characterized by intellectual disabilities, psychomotor developmental delays, macrocephaly, and Parkinson's disease which starts before the age of 45. Additional symptoms include epilepsy, strabismus, and frontal bossing.
CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40 is a rare genetic disorder which is characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies.
Curry–Jones syndrome is a rare genetic disorder which is characterized by brain, osseous, cutaneous, ocular, ans intestinal anomalies associated with congenital minor physical anomalies.
Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.
Severe intellectual disability-progressive spastic diplegia syndrome is a rare novel genetic disorder characterized by severe intellectual disabilities, ataxia, craniofacial dysmorphisms, and muscle spasticity. It is a type of autosomal dominant syndromic intellectual disability.
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome is a rare autosomal dominant genetic disorder characterized by cardiofaciodigital anomalies occurring alongside Pierre Robin sequence. Additional features include abnormal sense of smell, camptodactyly, recurrent joint dislocations, and short stature. Around 6 to 12 cases have been described in medical literature.
References
- 1 2 Dias, Patricia; Neves, Mariana, eds. (March 2021). "Autosomal dominant intellectual disability craniofacial anomalies cardiac defects syndrome". Orphanet . Retrieved 2023-02-15.
- 1 2 "Arboleda-Tham syndrome". yeastgenome.org. Retrieved 2022-06-24.
- ↑ Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, et al. (March 2015). "De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay". American Journal of Human Genetics. 96 (3): 498–506. doi:10.1016/j.ajhg.2015.01.017. PMC 4375619 . PMID 25728775.
- 1 2 Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, et al. (July 2016). "Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder". American Journal of Medical Genetics. Part A. 170 (7): 1791–1798. doi:10.1002/ajmg.a.37670. PMID 27133397. S2CID 23829096.
- 1 2 Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, et al. (April 2019). "KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants". Genetics in Medicine. 21 (4): 850–860. doi:10.1038/s41436-018-0259-2. PMC 6634310 . PMID 30245513.
- ↑ "OMIM Entry - # 616268 - Arboleda-Tham Syndrome". omim.org. Retrieved 2022-06-24.
- ↑ Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, et al. (March 2015). "Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features". American Journal of Human Genetics. 96 (3): 507–513. doi:10.1016/j.ajhg.2015.01.016. PMC 4375419 . PMID 25728777.
- ↑ Lin YF, Lin TC, Kirby R, Weng HY, Liu YM, Niu DM, et al. (December 2020). "Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay". Molecular Genetics and Metabolism Reports. 25: 100686. doi:10.1016/j.ymgmr.2020.100686. PMC 7723794 . PMID 33318932.
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