In 50% of cases, seizures can also be present. [orpha.net]

The leukaemia in the present patient was an ALL of common phenotype. [jmg.bmj.com]

Here, we present a patient with congenital exophthalmos which is a very rare manifestation in neonates. [karger.com]

CFC is a phenotypically variable disorder; not all affected individuals will present with every finding. Further, some findings may be evident at birth while others may present later. [invitae.com]

Surgical recommendations to be assisted by gastroenterologist. • If feeding difficulties are present, then refer for feeding therapy evaluation. [ncbi.nlm.nih.gov]

• Surgical Procedure

  In such cases, the surgical procedures performed will depend upon the location, severity, and/or combination of anatomical abnormalities and their associated symptoms. [rarediseases.org]

• Malnutrition

  Most children have malnutrition secondary to avoidance of eating. Fatty liver and anal stenosis (tightening of the anal sphincter) have also been reported. [rarediseases.org]

  Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. Am J Med Genet A. 2005;137(A):1–8 [PubMed] [Google Scholar] 45. Aizaki K, Sugai K, Saito Y, et al.. [ncbi.nlm.nih.gov]

• Failure to Thrive

  Failure to thrive during infancy is typical, as are gastrointestinal complications such as reflux, vomiting, oral aversion, and constipation. [invitae.com]

  It is possible that all of this will result in failure to thrive. [krebs-praedisposition.de]

  […] to thrive[4] Presentation[edit] Head[edit] Individuals with the disorder usually have distinctive malformations of the craniofacial area including an unusually large head (macrocephaly), prominent forehead, and abnormal narrowing of both sides of the [en.wikipedia.org]

  Feeding difficulties, leading to failure to thrive, gastroesophageal reflux (GER), vomiting and constipation often appear in infancy but improve in childhood. Growth failure leading to short stature is sometimes due to a growth hormone deficiency. [orpha.net]

  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). [wikidoc.org]

• Heart Disease

  Heart disease Abnormal chromosome Genetic disease Osteochondrodysplasia Skin disease Stomatology Complex syndrome Nervous system diseases Diseases of the osteoarticular system Keyword (es) Cromosoma D15 anormal Cromosoma G22 anormal Diagnóstico diferencial [pascal-francis.inist.fr]

  Patients demonstrate a wide variety of clinical problems, including neurological features such as learning disability and epilepsy, congenital heart disease and cardiomyopathy, and a wide variety of cutaneous manifestations. [rasopathiesnet.org]

  Common features of CFC syndrome include congenital heart disease, characteristic facial features and skin abnormalities. Almost everyone with CFC syndrome will have some range of intellectual disabilities, ranging from mild to severe. [cincinnatichildrens.org]

  The most common features of Noonan syndrome are: unusual facial features, such as a broad forehead, drooping eyelids and a wider-than-usual distance between the eyes short stature (restricted growth) heart defects (congenital heart disease) It's estimated [nhs.uk]

  […] block CHD common hepatic duct congenital heart disease coronary heart disease chem: chemistry CHESS: chemical shift selective pulses (all vendors) CHF: congestive heart failure CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma [radiopaedia.org]

• Visual Impairment

  Ophthalmology At risk for ptosis, amblyopia, refractive errors, strabismus, cataracts, optic nerve hypoplasia, optic atrophy, cortical visual impairment, delayed visual maturation, and abnormal depth perception. [ncbi.nlm.nih.gov]

• Muscle Weakness

  Muscles/skeleton: In the majority of CFC patients, there are muscular symptoms in the form of muscle weakness with reduced muscle mass and hyperelastic joints. [krebs-praedisposition.de]

  Peripheral muscle weakness in RASopathies. Muscle Nerve. 2012;46(3):394–399 [PubMed] [Google Scholar] 67. Tidyman WE, Lee HS, Rauen KA. [ncbi.nlm.nih.gov]

  Peripheral Muscle Weakness in RASopathies: Handgrip Strength in Costello, Cardio-facio-cutaneous, Noonan and Neurofibromatosis Type 1 Syndromes. Muscle and Nerve. 2012;46(3):394-9. Tidyman WE, HS Lee, KA Rauen. [rarediseases.org]

  Peripheral muscle weakness in RASopathies. Muscle Nerve. 2012;46:394–9. Article Google Scholar Detweiler S, Thacker MM, Hopkins E, Conway L, Gripp KW. Orthopedic manifestations and implications for individuals with Costello syndrome. [ojrd.biomedcentral.com]

• Eczema

  […] and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema [rasopathiesnet.org]

  […] admin Syndrome Facio-cardio-skin is characterized by cardiac abnormalities (abnormal heart valves, ventricular septal and inter atrial cardiomyopathy and cardiac arrhythmias), characteristic facial abnormalities and skin (hyperkeratosis, ichthyosis, eczema [afs-costello-cfc.asso.fr]

  […] nose and upper lip), pointed arched palate Low-lying ears rotated towards the back Skin, Hair, Nails: Skin: dry skin, excessive keratinization of the skin on the palms and the soles of the feet and on the arms, legs, and face, thickened hair follicles, eczema [krebs-praedisposition.de]

  NS with loose anagen hair Triangular facies, hypertelorism, high forehead, sparse thin hair, short stature, eczema, dry skin, and macrocephaly. [ncbi.nlm.nih.gov]

• Sparse Eyebrows

  frizzy, thin or thick, woolly, or brittle hair; sparse eyebrows and eyelashes or none at all Nails: underdeveloped, flat, and wide nails; rapid nail growth Other Anomalies: Muscles/skeleton: short neck, webbed neck, deformed rib cage, spinal deformations [krebs-praedisposition.de]

  Cutaneous findings usually include sparse, curly hair with sparse eyebrows and lashes, hyperkeratosis, keratosis pilaris, hemangioma, ichthyosis, progressively forming nevi, and flat, broad nails. [invitae.com]

  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. [rarediseases.org]

  Ectodermal anomalies were detected in all these patients, with sparse eyebrows (6/6), sparse and/or curly hair (4/6) and keratosis pilaris (2/6) occurring most commonly. [nature.com]

  Ulerythema ophryogenes, characterized by brow erythema with loss of follicles, causes sparse or absent eyebrows with only 10% of individuals having normal eyebrows.16 Numerous acquired melanocytic nevi are striking features of CFC, with this finding less [ncbi.nlm.nih.gov]

• Fear

  The defining feature of social anxiety disorder, also called social phobia, is intense anxiety or fear of being judged, negatively evaluated, or rejected in a social or performance situation. [adaa.org]

• Behavior Problem

  The children show developmental delay with learning and behavioral problems. They often have serious nutritional problems at a young age and can have a disrupted hormone balance. They have an increased risk of getting specific types of cancer. [encore-expertisecentrum.nl]

  Cognitive and behavioral At risk for intellectual disability, delayed fine and gross motor skills, emotional and behavioral problems, atypical sensory processing, and speech/language impairments. [ncbi.nlm.nih.gov]

• Global Developmental Delay

  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. [rarediseases.org]

• Dizziness

  Other symptoms can include problems with sleep, thinking and concentrating, pain, and dizziness. People with ME/CFS may not look ill. However, People with ME/CFS are not able to function the same way they did before they became ill. [cdc.gov]

• Cryptorchidism

  Clinical Information Noonan syndrome (NS) is an autosomal dominant disorder of variable expressivity characterized by short stature, congenital heart defects, characteristic facial dysmorphology, unusual chest shape, developmental delay of varying degree, cryptorchidism [logan.testcatalog.org]

  Renal/genitourinary At risk for kidney malformation, vesicoureteral reflux, and cryptorchidism. At diagnosis: • Renal ultrasound to evaluate for structural renal anomalies. • Refer to urologist and endocrinologist if cryptorchidism present. [ncbi.nlm.nih.gov]

  […] abnormal shape of the thorax (pectus carinatum); joint hyperextension; hypotonia (reduced muscle tone), neoplasia (typically lymphyoblastic leukemia), especially during the first years of life; urogenital anomalies; seizures; and undescended testes (cryptorchidism [rarediseases.org]

  These results are in disagreement with earlier studies pointing to a lower prevalence of hypertelorism among MEK1/MEK2 mutation-positive patients (73%) than of those with BRAF mutation (91%).16 Cryptorchidism has been described in the five male patients [nature.com]

• Cesarean Section

  section cavernous sinus chemical shift compressed sensing (MRI) coronary sinus corticospinal Cs: cesium C&S: culture and sensitivity C/S: cesarean section CSCR: central serous chorioretinopathy CSD: cortical spreading depression cSDH: chronic subdural [radiopaedia.org]

Treatment and Management Treatment There is no cure for CFC syndrome, but there are several treatments and therapies available. Each treatment plan is tailored to the patient, based on their medical issues. [cincinnatichildrens.org]

These can be publications in scientific journals, but also treatment guidelines for health care professionals or information brochures for patients or caregivers. [encore-expertisecentrum.nl]

Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Conclusion: The growth response to GH treatment observed in this patient is similar to that reported in children with NS and less than might be expected given the biochemical features of GH deficiency. [endocrine-abstracts.org]

Prognosis Prognosis is highly variable and is dependent on clinical manifestations. Life-expectancy can be close to normal or reduced (if severe heart and/or neurological manifestations are present). [orpha.net]

Prognosis for Patients with CFC Syndrome CFC syndrome is a lifelong disorder. Life expectancy depends on the severity of the heart defect and the other medical complications present. [cincinnatichildrens.org]

The prognosis of many aspects of CFC is still unknown, and full understanding of care expectations during childhood and adulthood is yet to be established. [ncbi.nlm.nih.gov]

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 [orpha.net]

A variety of malignant neoplastic, benign neoplastic, cystic, and vascular etiologies have been associated with proptosis at birth [Erickson and Tse, 2014]. [karger.com]

Prevalence and etiology of sensorineural hearing loss in children with down syndrome: a Cross-Sectional Study. Int J Pediatr Otorhinolaryngol. 2019;116:168–172. doi:10.1016/j.ijporl.2018.10.048 22. Shankar SP, Young T, Burner E, et al. [dovepress.com]

Regardless of phenotypic assignment, it is essential to establish the molecular etiology of all individuals with CFC to provide appropriate medical care. [ncbi.nlm.nih.gov]

Summary 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. [orpha.net]

Radiology Society of Europe CIS: clinically isolated syndrome CISS: constructive interference in steady state (Siemens) CIV: common iliac vein CJD: Creutzfeldt-Jakob disease CK: creatine kinase CKD: chronic kidney disease CKD-EPI: Chronic Kidney Disease-Epidemiology [radiopaedia.org]

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J Med Genet A. 2012;158A(5):1083–1094 [PubMed] [Google Scholar] 3. [ncbi.nlm.nih.gov]

For example, severe heart defects may need to be repaired with surgery, and growth hormone medicine may be used to help prevent restricted growth. [nhs.uk]

The treatment is aimed at reducing the complaints and preventing complications as much as possible. Attention to development and behavior is important for obtaining optimal development opportunities. [encore-expertisecentrum.nl]

They serve a good purpose, and help prevent misunderstandings. Neurodivergent people aren't dense, lacking in reading comprehension, or whatever ableist slur you can throw at them. Try to remember to include tone indicators in the original post. [toneindicators.carrd.co]

CD4, CD8, etc.) common duct compact disc Cotrel-Dubousset Crohn disease cystic duct Cd: cadmium cd: candela (SI unit of luminous intensity) CDC: Centers for Disease Control and Prevention (US federal agency) CDE: complete dental evaluation CDH congenital [radiopaedia.org]

In addition, in some cases, treatment with anticonvulsant drugs may help prevent, reduce, or control seizures. [rarediseases.org]