icd 10 code for cardiofaciocutaneous syndrome

ICD - 10: Q87.8 OMIM: 115150 MeSH: C535579 DiseasesDB: 30111

Full Answer

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 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.

What is the ICD 10 code for NEC?

Q87.89 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Short description: Oth congenital malformation syndromes, NEC. The 2018/2019 edition of ICD-10-CM Q87.89 became effective on October 1, 2018.

What is cardio Facio cutaneous syndrome?

What is Cardiofaciocutaneous Syndrome? Cardiofacialcutaneous (CFC) syndrome is a rare genetic condition that affects 200-300 people worldwide. Common features of CFC syndrome include congenital heart disease, characteristic facial features and skin abnormalities.

What is other specified congenital malformation syndromes?

89 for Other specified congenital malformation syndromes, not elsewhere classified is a medical classification as listed by WHO under the range - Congenital malformations, deformations and chromosomal abnormalities .

What is the ICD-10 code for vacterl syndrome?

EntryH01195 DiseaseOther DBsICD-11: LD2F.11 ICD-10: Q87.2 MeSH: C564752 OMIM: 276950 192350 314390 619227ReferencePMID:20849991AuthorsSchramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nothen MM, Ludwig M, Reutter HTitleDe novo microduplication at 22q11.21 in a patient with VACTERL association.33 more rows

What causes Costello Syndrome?

Causes. Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division . Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active).

What is the ICD-10 code for Bardet Biedl?

Bardet-Biedl Syndrome D020788.

What is the ICD-10 code for Loeys Dietz syndrome?

EntryH00800 DiseaseOther DBsICD-11: LD28.01 ICD-10: I71.0 MeSH: D055947 OMIM: 609192 608967 610168 610380 613795 614816 615582 619656ReferencePMID:21785848AuthorsKalra VB, Gilbert JW, Malhotra ATitleLoeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.33 more rows

What is Vater VACTERL syndrome?

VATER syndrome, also known as VACTERL association, is a term used when a child is diagnosed with birth defects in three or more body parts. The acronym stands for: V – vertebral abnormalities. A – anal atresia (absence or closure of anus) C – cardiac (heart defects)

What is Holt Oram Syndrome?

Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals.

Is VACTERL syndrome genetic?

The cause of VACTERL association remains unknown in most patients and is likely caused by a combination of different factors (multifactorial). It is not considered a hereditary disorder and usually occurs in a single individual in any given family.

What causes Cornelia de Lange syndrome?

Cornelia de Lange syndrome is genetic condition that is caused by mutations in at least five genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A). The severity of the condition can vary greatly depending on the type of mutation and which gene is affected. More than half of people with CdLS have mutations in the NIPBL gene.

What is the life expectancy of someone with Costello syndrome?

Prognosis for Patients with Costello Syndrome Costello syndrome is a lifelong condition. Life expectancy often depends on how severe the heart defect is, and on the other medical complications present.

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Epidemiology

Around 300 cases have been published in the literature to date. Prevalence has been estimated at 1/810,000 people in Japan. However prevalence is believed to be higher.

Clinical description

Cardiofaciocutaneous (CFC) syndrome displays wide phenotypic variability. Polyhydramnios is often reported. Neonates present at birth with relative macrocephaly, short webbed neck and distinctive dysmorphic craniofacial features (i.e.

Etiology

CFC syndrome is considered a RASopathy and is due to mutations in one of the 4 genes: BRAF (7q34) (in 75% of CFC cases), MAP2K1 (15q22.1-q22.33), MAP2K2 (19p13.3), and KRAS (12p12.1), which encode proteins of the sarcoma/mitogen-activated protein kinase (RAS/MAPK) signaling pathway.

Diagnostic methods

Clinical diagnosis is based mainly on the presence and frequency of the characteristic clinical traits and the sporadic occurrence of the disease. Molecular genetic testing, preferably multigene panel testing, including all known RASopathy genes, is preferable.

Differential diagnosis

Differential diagnoses include Costello Syndrome (CS) and Noonan Syndrome, which have overlapping phenotypes with CFC syndrome. CFC syndrome, unlike CS, does not appear to have an increased risk of malignancies.

Genetic counseling

All bona fide cases reported to date are due to de novo dominant mutations. Due to sporadic nature of the disease, the sibling recurrence risk is very small.

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.