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Megalencephaly is a growth development disorder in which the brain is abnormally large. It is characterized by a brain with an average weight that is 2.5 standard deviations above the mean of the general population. Approximately 1 out of 50 children (2%) are said to have the characteristics of megalencephaly in the general population.
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986.
Kabuki syndrome is a rare 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.
Polymicrogyria (PMG) is a condition that affects the development of the human brain by multiple small gyri (microgyri) creating excessive folding of the brain leading to an abnormally thick cortex. This abnormality can affect either one region of the brain or multiple regions.
MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only seven cases around the world, and occurs in 1 in 100 million births. The name is an acronym of the four primary aspects of the disorder: Macrosomia, Obesity, Macrocephaly and Ocular abnormalities. It is unknown if it is a life-limiting condition. MOMO syndrome was first diagnosed in 1993 by Professor Danilo Moretti-Ferreira, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders.
Cohen syndrome is a very rare autosomal recessive genetic disorder with varied expression, characterised by obesity, intellectual disability, distinct craniofacial abnormalities and potential ocular dysfunction.
Monosomy 9p is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23). This deletion either happens de novo or as a result of a parent having the chromosome abnormality. This rare chromosomal abnormality is often diagnosed after birth when developmental delay, irregular facial features, structural irregularities within the heart, and genital defects are observed. Treatments for this syndrome usually focus on fixing the malformations that are commonly associated with it. The cause of the syndrome was first discovered by Dr. Omar Alfi in 1973, when an analysis of the chromosomes of three infants with similar clinical abnormalities revealed that they all had a partial deletion of the short arm of Chromosome 9. Symptoms include micro genitalia, intellectual disability with microcephaly and dysmorphic features.
Weaver syndrome is an extremely rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. It is similar to Sotos syndrome and is classified as an overgrowth syndrome.
FG syndrome (FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first patients noted with the disease. First reported by American geneticists John M. Opitz and Elisabeth G. Kaveggia in 1974, its major clinical features include intellectual disability, hyperactivity, hypotonia, and a characteristic facial appearance including macrocephaly.
Wilson-Turner syndrome (WTS), also known as mental retardation X linked syndromic 6 (MRXS6), and mental retardation X linked with gynecomastia and obesity is a congenital condition characterized by intellectual disability and associated with childhood-onset obesity. It is found to be linked to the X chromosome and caused by a mutation in the HDAC8 gene, which is located on the q arm at locus 13.1. Individuals with Wilson–Turner syndrome have a spectrum of physical characteristics including dysmorphic facial features, hypogonadism, and short stature. Females generally have milder phenotypes than males. This disorder affects all demographics equally and is seen in less than one in one million people.
Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities. Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation, body asymmetry, polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. The disorder may be accompanied by autism, mild intellectual disability, delayed motor, cognitive, and social development, hypotonia, and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls (macrocephaly) than is normal for their age. Signs of the disorder, which vary among individuals, include a disproportionately large skull with a slightly protrusive forehead, large hands and feet, large mandible, hypertelorism, and downslanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur.
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.
SET domain containing 5 is a protein that in humans is encoded by the SETD5 gene. It is a member of the histone lysine methyltransferase family. Overexpression of SETD5 is associated positively with progression of breast cancer. Mutations in SETD5 are associated with a rare developmental disorder termed autosomal dominant mental retardation-23. MRD23 is mainly characterized by variable congenital defects and dysmorphic facies. Clinical features include developmental delay, intellectual disability, chewing abnormalities, hypospadias, and cryptorchidism in males in association with craniofacial dysmorphisms.
DeSanto-Shinawi (DESSH) syndrome is a rare genetic disorder caused by genetic variations (mutations) in a gene called WW Domain-Containing Adaptor with Coiled-coil Region. The condition was first described in 2015 in six individuals. The prevalence of DESSH syndrome is unknown at this time, but 25 individuals have been so far described in the medical literature. However, many other individuals with this condition are being studied and characterized. With the increasing utilization of exome and whole genome sequencing, it is anticipated that many more individuals will be identified.
Diffuse capillary malformation with overgrowth (DCMO) is a subset of capillary malformations (CM) associated with hypertrophy, i.e. increased size of body structures. CM can be considered an umbrella term for various vascular anomalies caused by increased diameter or number of capillary blood vessels. It is commonly referred to as "port-wine stain", and is thought to affect approximately 0.5% of the population. Typically capillaries in the papillary dermis are involved, and this gives rise to pink or violaceous colored lesions. The majority of DCMO lesions are diffuse, reticulated pale-colored stains.
Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. It is characterized by hypotonia, intellectual disability, and macrocephaly. Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder.
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases.
Tatton-Brown–Rahman syndrome (TBRS) is a rare overgrowth and intellectual disability syndrome caused by autosomal dominant mutations in the DNMT3A gene. The syndrome was first recognized in 2014 by Katrina Tatton-Brown, Nazneen Rahman, and collaborators.
References
- 1 2 Zhang, Yanqing; Zhang, Haozheng; Wu, Wei; Wang, Dong; Lv, Yuqiang; Zhao, Dongmei; Wang, Lingxiao; Liu, Yi; Zhang, Kaihui (2023-01-27). "Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review". Frontiers in Genetics. 14: 1081391. doi: 10.3389/fgene.2023.1081391 . ISSN 1664-8021. PMC 9911649 . PMID 36777730.
- ↑ "Luscan-Lumish syndrome (Concept Id: C4085873) - MedGen - NCBI". National Library of Medicine . Retrieved 2024-09-30.
- ↑ Suda, Kentaro; Fukuoka, Hidenori; Iguchi, Genzo; Kanie, Keitaro; Fujita, Yasunori; Odake, Yukiko; Matsumoto, Ryusaku; Bando, Hironori; Ito, Hiroki; Takahashi, Michiko; Chihara, Kazuo; Nagai, Hiroshi; Narumi, Satoshi; Hasegawa, Tomonobu; Ogawa, Wataru (2020-11-29). "A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling". The Journal of Clinical Endocrinology & Metabolism. 106 (3): 718–723. doi:10.1210/clinem/dgaa893. ISSN 0021-972X. PMID 33248444.