ICD-9-CM Diagnosis Code 759.89 : Other specified congenital anomalies.
What is cardiofaciocutaneous syndrome?
Cardiofaciocutaneous syndrome is a genetic disease, which means that it is caused by one or more genes not working correctly. What is a gene? What is a genetic variant?
What is the ICD-9 code for diagnosis?
ICD-9-CM 759.89 is a billable medical code that can be used to indicate a diagnosis on a reimbursement claim, however, 759.89 should only be used for claims with a date of service on or before September 30, 2015.
What are the signs and symptoms of cardiofaciocutaneous syndrome (CFS)?
Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive).
What is the ICD 10 code for malformation syndromes?
2018/2019 ICD-10-CM Diagnosis Code Q87.1. Congenital malformation syndromes predominantly associated with short stature. Q87.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
When was CFC syndrome first described?
CFC syndrome was first described in 1986 , based on the observation of eight unrelated patients who had intellectual disability and similar abnormalities in facial appearance, skin, hair, nails and heart.
What are the causes of CFC syndrome?
Causes. CFC syndrome is a dominant genetic disorder caused by an abnormality (mutation) in one of four genes: BRAF (~75%), MAP2K1 ( MEK1 ), MAP2K2 ( MEK2) (~25%) and KRAS (<2%). These genes are part of a pathway called Ras/Mitogen-activated protein kinase (MAPK) that is important in cell growth and cell division.
What are the symptoms of CFC?
Children with CFC Syndrome usually have sparse, slow growing, fine or thick, curly scalp hair that is abnormally dry and brittle. They also have absent or sparse eyebrows and eyelashes.
What are the most common heart defects?
Heart. Congenital heart defects are present in over 75% of patients, with the most common heart defects being pulmonic stenosis and atrial or ventricular septal defects. There may also be hypertrophic cardiomyopathy (thickening of the heart muscle) and rhythm disturbances.
Is CFC syndrome a cognitive disability?
Intellectual Disability. There is some form of cognitive or neurologic delay in nearly all patients with CFC syndrome. Most individuals fall in the range of moderate intellectual disability. Global developmental delay including gross motor and language delay is very common.
Can CFC cause ocular problems?
Although most individuals with CFC syndrome have ocular symptoms, some have a normal ophthalmologic examination. Feeding/gastrointestinal. Severe feeding problems manifest as gastroesophageal reflux (GER), aspiration, vomiting, and affected individuals will avoid eating (avoidance of eating can lead to growth delays).
What are the features of cardiofaciocutaneous syndrome?
These include a high forehead that narrows at the temples, a short nose, widely spaced eyes ( ocular hypertelorism ), outside corners of the eyes that point downward ( down-slanting palpebral fissures ), droopy eyelids ( ptosis ), a small chin, and low-set ears.
What is the group of related conditions that includes cardiofaciocutaneous syndrome, Costello syndrome, and Noonan
The group of related conditions that includes cardiofaciocutaneous syndrome, Costello syndrome, and Noonan syndrome is often called the RASopathies. Learn more about the genes associated with Cardiofaciocutaneous syndrome. Expand Section.
Is cardiofaciocutaneous syndrome autosomal dominant?
Cardiofaciocutaneous syndrome is considered to be an autosomal dominant condition, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Cardiofaciocutaneous syndrome usually results from new gene mutations and occurs in people with no history of the disorder in their family.
What is Cockayne syndrome?
Cockayne syndrome is classified by the severity and age of onset. Type i (classical; csa) is early childhood onset in the second year of life; type ii (congenital; csb) is early onset at birth with severe symptoms; type iii (xeroderma pigmentosum; xp) is late childhood onset with mild symptoms.
What is the overlap between Leopard syndrome and Neurofibromatosis?
In addition, there is overlap with the syndrome called neurofibromatosis-noonan syndrome due to mutations in nf1. A rare autosomal recessive or dominant inherited disorder.
What is the phenotype of noonan syndrome?
Noonan syndrome occurs in both males and females with a normal karyotype (46,xx and 46,xy). Mutations in a several genes (ptpn11, kras, sos1, nf1 and raf1) have been associated the the ns phenotype. Mutations in ptpn11 are the most common.
Symptoms
- Most individuals are initially referred because of feeding difficulties (poor suck) and failure to thrive. Later, cognitive developmental delay and other clinical manifestations may be observed. Severe feeding problems manifest as gastroesophageal reflux (GER), aspiration, vomiting, and affected individuals will avoid eating (avoidance of eating ca...
Characteristics
- Affected individuals may have a relatively large head (macrocephaly) when compared to their height, a high forehead and abnormal narrowing of the sides of the forehead (bitemporal narrowing), causing the head to appear box-like in shape. The ears are abnormally angulated towards the back of the head and low set (posteriorly angulated) with the ear lobes occasionall…
Epidemiology
- Congenital heart defects are present in over 75% of patients, with the most common heart defects being pulmonic stenosis and atrial or ventricular septal defects. There may also be hypertrophic cardiomyopathy (thickening of the heart muscle) and rhythm disturbances. These defects may be diagnosed at birth or later in life. Currently, there is no study providing an accurate estimate of th…
Prognosis
- There is some form of cognitive or neurologic delay in nearly all patients with CFC syndrome. Most individuals fall in the range of moderate intellectual disability. Global developmental delay including gross motor and language delay is very common. Autism and other sensory behavioral issues have been reported in some individuals with CFC syndrome.
Signs and symptoms
- Symptoms affecting the eyes can effect both their appearance: ocular hypertelorism (increased distance between eyes), strabismus (uneven alignment of the eyes) and their function; involuntary eye movements, astigmatism, nearsightedness and/or farsightedness. Optic nerve hypoplasia, cortical blindness, and cataracts have been described. Although most individuals with CFC synd…
Causes
- CFC syndrome is a dominant genetic disorder caused by an abnormality (mutation) in one of four genes: BRAF (~75%), MAP2K1 (MEK1), MAP2K2 (MEK2) (~25%) and KRAS (<2%). These genes are part of a pathway called Ras/Mitogen-activated protein kinase (MAPK) that is important in cell growth and cell division. Some affected individuals do not have a mutation in one of these gene…
Diagnosis
- Symptoms of the following disorders may be similar to those of Cardiofaciocutaneous syndrome. Comparisons may be useful for a differential diagnosis: There may be additional congenital disorders that are characterized by craniofacial malformations, hair abnormalities, skin changes, congenital heart defects, intellectual disability, and/or other symptoms and findings similar to th…
Appearance
- Individuals with Noonan syndrome may also have wispy scalp hair during infancy that becomes unusually wooly or curly during later childhood. In addition, in most cases, affected individuals have a distinctive chest malformation characterized by abnormal protrusion of the upper (superior) portion of the bone forming the center of the chest (sternum) and/or abnormal depres…
Pathophysiology
- In many males with Noonan syndrome, one or both testes may have failed to descend into the scrotum (cryptorchidism). In addition, affected individuals often have congenital heart defects, particularly obstruction of the normal flow of blood from the lower right chamber (ventricle) of the heart to the lungs (valvar pulmonary stenosis). Additional abnormalities associated with Noona…
Genetics
- Noonan syndrome has autosomal dominant inheritance. Cases in which a positive family history has not been found are thought to represent new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic). There are now more than 10 genes known to cause Noonan syndrome, with more likely to be reported in the coming years. (For more information o…
Treatment
- Treatment The treatment of CFC syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians; physicians who diagnose and treat skin disorders (dermatologists), heart abnormalities (cardiologists), eye disorders (ophthalmologists), and/or neurological abnor…
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