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What is Kleefstra syndrome? Kleefstra syndrome is a rare genetic condition that affects development and involves many body systems. People with Kleefstra syndrome usually have distinct facial features, developmental delay, intellectual disability, low muscle tone (hypotonia), and communication difficulties.
Based on data from other rare disorders involving intellectual disability [McRae et al 2017], Kleefstra syndrome is estimated to affect at least 1:120,000 individuals who have a neurodevelopmental disorder [Author, personal observation]; as many individuals with this condition are not diagnosed, the true prevalence may ...
9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability.
Researchers at the RIKEN Cluster for Pioneering Research (CPR) in Japan report that Kleefstra syndrome, a genetic disorder that leads to intellectual disability, can be reversed after birth in a mouse model of the disease.
Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia). Affected individuals also have an unusually small head size (microcephaly) and a wide, short skull (brachycephaly ).
Research shows that several genes that control cell growth and division are located on chromosome 9. Many of these genes are tumor suppressors, which means they normally help prevent cells from growing and dividing in an uncontrolled way.
General Discussion. Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures.
Summary. Smith-Magenis syndrome (SMS) is a complex developmental disorder that affects multiple organ systems of the body. The disorder is characterized by a pattern of abnormalities that are present at birth (congenital) as well as behavioral and cognitive problems.
Emanuel syndrome is a chromosomal disorder that is characterized by learning problems and stunted growth and development.[2455] The signs and symptoms are varied and may include decreased muscle tone (hypotonia) and developmental delay in childhood, intellectual disability severe, extremely small head (microcephaly), ...
Males have an X and a Y sex chromosome (XY). Klinefelter syndrome can be caused by: One extra copy of the X chromosome in each cell (XXY), the most common cause. An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms.
CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities.
Inheritance. Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. The disorder is believed to result from new gene mutations.
Emanuel syndrome is a chromosomal disorder that is characterized by learning problems and stunted growth and development.[2455] The signs and symptoms are varied and may include decreased muscle tone (hypotonia) and developmental delay in childhood, intellectual disability severe, extremely small head (microcephaly), ...
Disease at a Glance Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new genetic change. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential.
General Discussion. Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures.
Description. Collapse Section. Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.
Kleefstra syndrome is a disorder caused by terminal microdeletion of chromosome 9q34 involving loss of the EHMT1 gene, or by mutations that disable the function of the EHMT1 gene. Kleefstra syndrome involves many parts of the body including the brain, muscles, and bones. DIAGNOSTIC TESTING, PHYSICAL FINDINGS, ...
Onset is congenital. Children with Kleefstra syndrome may exhibit features of autism or related developmental disorders affecting communication and social interaction. In adolescence, they may develop a general loss of interest and enthusiasm (apathy) or extreme unresponsiveness (catatonia). TREATMENT.
The 2022 edition of ICD-10-CM Q98.4 became effective on October 1, 2021.
Klinefelter syndrome increases the risk of developing extragonadal germ cell tumors and breast cancer. A sex chromosome disorder caused by the presence of an extra x chromosome in the male karyotype.
Gynecomastia is present in many of the patients. The classic form has the karyotype 47,xxy. Several karyotype variants include 48,xxyy; 48,xxxy; 49,xxxxy, and mosaic patterns ( 46,xy/47,xxy; 47,xxy/48,xxxy, etc.). A genetic disorder in males caused by having one or more extra x chromosomes.
The most common symptom is infertility. Because they often don't make as much of the male hormone testosterone as other boys, teenagers with klinefelter's syndrome may have less facial and body hair and may be less muscular than other boys. They may have trouble using language to express themselves.
Q93.5 is a billable ICD code used to specify a diagnosis of other deletions of part of a chromosome. A 'billable code' is detailed enough to be used to specify a medical diagnosis.
Billable codes are sufficient justification for admission to an acute care hospital when used a principal diagnosis. The Center for Medicare & Medicaid Services (CMS) requires medical coders to indicate whether or not a condition was present at the time of admission, in order to properly assign MS-DRG codes.
9q34 deletion syndrome, also known as kleefstra syndrome, is a rare genetic disorder. terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. the facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip. individuals with this disease may often have speech impediments, such as speech delays. other characteristics of this disease include: epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. from analysis of chromosomal breakpoints, as well as gene sequencing in suggestive cases, kleefstra and colleagues identified ehmt1 as the causative gene. this gene is responsible for producing the protein histone methyltransferase which functions to alter histones. ultimately, histone methyltransferases are important in deactivating certain genes, needed for proper growth and development. moreover, a frameshift, missense, or nonsense error in the coding sequence of ehmt1 can result in this condition in an individual.
The prevalence is unknown. However, based on genomic wide studies, it is estimated to be around 1 in 500 individuals with a neurodevelopmental disorder.
Patients with Kleefstra syndrome (KS) have a distinctive facial appearance comprised of brachy-microcephaly, midface hypoplasia, unusual eyebrow shape, synophrys, cupid bow upper lip, full-everted lower lip, protruding tongue and prognathism. With age, facial features become more coarse.
The majority of the clinical features in KS can be attributed to loss of function of EHMT1, either due to a point mutation or a microdeletion in the chromosome region 9q34.3, leading to the loss of the entire gene. This gene encodes an enzyme that modifies histone function and is essential for normal development.
Diagnosis of KS is determined by the presence of the characteristic clinical features and molecular genetic testing. Most cases will be identified by unbiased genetic testing, including chromosomal microarray, intellectual disability gene panels, whole exome or whole genome sequencing. Targeted genetic testing is possible.
Differential diagnoses include Down, Pitt-Hopkins, Smith-Magenis, Angelman, Rett and 2q23.1 microdeletion syndromes.
Antenatal diagnosis is offered to unaffected parents of a child with KS, especially in case of parental mosaicism of the pathogenic variant or in case of balanced chromosomal rearrangements in one of the parents.
Most reported cases have been de novo but familial recurrence has been observed. KS has a theoretical autosomal dominant transmission, but the majority of patients do not reproduce.
Diagnosis of KS is determined by the presence of the characteristic clinical features and molecular genetic testing. A microarray detects any duplications/deletions. Fluorescent in situ hybridization (FISH) or multiplex ligation-dependent probe amplification (MLPA) can then be used to detect the specific 9q34.3 deletion seen in KS. Sequencing of the entire coding region of the EHMT1 gene can detect sequence variants.
Patients with KS have a distinctive facial appearance comprised of brachy- microcephaly, midface hypoplasia, unusual eyebrow shape, synophyrs, cupid bow upper lip, full everted lower lip, protruding tongue and prognathism. With age, facial features become coarser and dental anomalies, like retention of primary dentition, are seen. Birth weight is normal but half of children go on to suffer from obesity. Childhood hypotonia causes motor delay but most children walk independently by age 2 or 3. Most patients have moderate to severe intellectual disability with expressive speech delay and little speech development (nonverbal communication is possible). Additional features include congenital heart malformations (interauricular communication, ventricular septal defects, bicuspid aortic valve, pulmonary valve stenosis (see these terms)), genital defects in males (hypospadias, cryptorchidism, micropenis), renal defects (hydronephrosis, chronic renal insufficiency, renal cysts, vesico-ureteral reflux), epilepsy, recurrent infections, severe constipation and hearing problems. In adolescence/adulthood behavioral problems (aggressive/emotional outbursts, attention deficit problems, self-mutilation and severe sleep disturbances) can begin. Autistic-like behavior can be noted earlier in some children. Recurrent pulmonary infections, overweight and behavioral problems seem to be reported more often in those with KS due to a point mutation, whereas microcephaly, short stature, respiratory complications and tracheomalacia are more frequently seen in those with KS due to a 9q34 microdeletion.
Definition. Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
The prognosis of KS is variable but in most cases it is not a life-threatening disease.
A type of pervasive developmental disorder that differs from childhood autism either in the age of onset or in failing to fulfill all three sets of diagnostic criteria.
ICD-10 code 299.00 is used to define autistic disorder with various characteristic. The code further characterizes autistic disorder into:
The ICD-10 transition is a mandate that applies to all parties covered by HIPAA, not just providers who bill Medicare or Medicaid.
On January 16, 2009, the U.S. Department of Health and Human Services (HHS) released the final rule mandating that everyone covered by the Health Insurance Portability and Accountability Act (HIPAA) implement ICD-10 for medical coding.
On December 7, 2011, CMS released a final rule updating payers' medical loss ratio to account for ICD-10 conversion costs. Effective January 3, 2012, the rule allows payers to switch some ICD-10 transition costs from the category of administrative costs to clinical costs, which will help payers cover transition costs.