icd 10 code for kleefstra syndrome

What is Kleefstra syndrome?

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. Epidemiology.

What is the ICD 10 code for Klinefelter syndrome?

Klinefelter syndrome, unspecified. Q98.4 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2020 edition of ICD-10-CM Q98.4 became effective on October 1, 2019.

What is the ICD 10 code for Klippel-Feil syndrome?

Klippel-Feil syndrome. 2016 2017 2018 2019 Billable/Specific Code POA Exempt. Q76.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. The 2018/2019 edition of ICD-10-CM Q76.1 became effective on October 1, 2018.

What is the ICD 10 code for Down syndrome?

Down syndrome, unspecified 1 Q90.9 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. 2 The 2021 edition of ICD-10-CM Q90.9 became effective on October 1, 2020. 3 This is the American ICD-10-CM version of Q90.9 - other international versions of ICD-10 Q90.9 may differ.

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.

What is ZTTK syndrome?

ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities.

What is Kabuki syndrome?

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.

What is the ICD 10 code for Emanuel syndrome?

Other deletions of part of a chromosome The 2022 edition of ICD-10-CM Q93. 5 became effective on October 1, 2021.

What causes ZTTK syndrome?

ZTTK syndrome is caused by heterozygous mutations in the SON gene. As an autosomal dominant disease, children with parents carrying a SON mutation have a 50% risk of inheriting the mutation.

How many people in the world have ZTTK syndrome?

There are presently 30 cases of ZTTK syndrome reported worldwide, but there has been no report of ZTTK syndrome caused by SON mutation in Chinese patients.

What is Freeman Sheldon Syndrome?

Summary. Freeman-Sheldon syndrome (FSS) or “whistling face syndrome” is an exceptionally rare disorder present before birth (congenital) that primarily affects muscles of the face and skull (craniofacial muscles) but frequently involves problems with joints of the hands and feet.

What is Beare Stevenson syndrome?

Overview. Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis).

What is Mowat Wilson syndrome?

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.

What is Phelan McDermid Syndrome?

Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes developmental and speech delays, behavioral problems and a weakened or no ability to feel pain or sweat. Phelan-McDermid syndrome is a congenital condition (condition that is present at birth) that can affect people of all genders.

What type of mutation is Emanuel syndrome?

Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 that introduces extra genetic material in the form of the der(22) chromosome. This extra genetic material causes birth defects and the other health problems characteristic of this disorder.

How is Emanuel syndrome diagnosed?

The diagnosis is made with a blood test to analyse the chromosomes. Doctors commonly order a chromosome analysis in babies who have birth defects or delays in their development. Therefore, most children with Emanuel syndrome are diagnosed in infancy (within the first year of life).

What is the cause of Klinefelter syndrome?

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.

Why do boys with Klinefelter's syndrome have less facial hair?

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.

What is the karyotype of gynecomastia?

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.

What is Kleefstra syndrome?

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, ...

Is Kleefstra syndrome congenital?

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.

Epidemiology

The prevalence is unknown. However, based on genomic wide studies, it is estimated to be around 1 in 500 individuals with a neurodevelopmental disorder.

Clinical description

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.

Etiology

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.

Diagnostic methods

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 diagnosis

Differential diagnoses include Down, Pitt-Hopkins, Smith-Magenis, Angelman, Rett and 2q23.1 microdeletion syndromes.

Antenatal diagnosis

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.

Genetic counseling

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.

What is the ICd 10 code for deletion of chromosomes?

Other deletions of part of a chromosome 1 Q93.5 should not be used for reimbursement purposes as there are multiple codes below it that contain a greater level of detail. 2 The 2021 edition of ICD-10-CM Q93.5 became effective on October 1, 2020. 3 This is the American ICD-10-CM version of Q93.5 - other international versions of ICD-10 Q93.5 may differ.

What is happy puppet syndrome?

A condition in which children laugh frequently for almost any reason and whose jerky movements and flapping of the hands are similar to those of a marionette, or puppet-- hence the synonym "happy puppet syndrome.". other disorders include a peculiar facial expression, mental retardation, movement disorders, microbrachycephaly, ...

What are the features of a KS patient?

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.

What is a KS?

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.

What is the name of the syndrome that results from having an extra copy of chromosome 21?

Down syndrome is set of mental and physical symptoms that result from having an extra copy of chromosome 21. Even though people with down syndrome may have some physical and mental features in common, symptoms of down syndrome can range from mild to severe.

What is the term for the presence of a third copy of chromosome 21?

A chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells. A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births.