What is Kleefstra syndrome?

Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia).

What is the ICD 10 code for Kleefstra syndrome?

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How is Kleefstra syndrome diagnosed?

How is Kleefstra syndrome diagnosed? The diagnosis of Kleefstra syndrome depends on the identification of a mutation or deletion involving the gene EHMT1. Your doctor will determine whether genetic testing is appropriate after reviewing your child’s medical history and examining their nervous system.

How many cases of Kleefstra syndrome are there?

To date, 114 cases have been described. 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.

What is Smith Magenis Syndrome?

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.

What is Pitt Hopkins Syndrome?

Pitt-Hopkins syndrome (PTHS) is a rare, genetic, neurological disorder. Affected children have distinctive facial features and experience intellectual disability, delays in reaching developmental milestones, impaired ability to speak, and can have recurrent seizures, and breathing pattern abnormalities.

What is the ICD 10 code for Encephalopathy?

G93. 40 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

Who discovered Kleefstra syndrome?

Kleefstra syndrome is named after Dutch clinical geneticist Dr Tjitske Kleefstra. Before being officially given the name Kleefstra syndrome there were a number of different names associated with this chromosomal deletion; 9q34.

What is the treatment for Smith-Magenis Syndrome?

Additional medical, social and vocational services may be recommended when appropriate. Certain medications may be used to treat behavioral problems such as attention deficit or hyperactivity. Specific medications have also been used to treat sleep disorders potentially associated with SMS.

Is Smith-Magenis Syndrome a disability?

Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.

What is the rarest disability in the world?

According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.

How rare is Pitt-Hopkins Syndrome?

Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately 500 affected individuals have been reported worldwide.

How is the diagnosis of Kleefstra syndrome determined?

Larger deletions (>1mb) are associated with more severe symptoms. Diagnosis of KS is determined by the presence of the characteristic clinical features and molecular genetic testing. A microarray detects any duplications/deletions.

What is the ICD 10 cm code for OTH?

Short Description: Oth congenital malformation syndromes, NEC. Long Description: Other specified congenital malformation syndromes, not elsewhere classified. This is the 2019 version of the ICD-10-CM diagnosis code Q87.89. Valid for Submission. The code Q87.89 is valid for submission for HIPAA-covered transactions.

What is the ICD 10 cm diagnosis code q93.89?

Q93.89 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

What is the ICD 10 cm diagnosis code?

2018/2019 ICD-10-CM Diagnosis Code Q93.5. Other deletions of part of a chromosome. Q93.5 should not be used for reimbursement purposes as there are multiple codes below it that contain a greater level of detail.