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

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

Irregularly shaped depigmented spots can be present on the face, trunk and extremities. Typical CAL spots can be present. [medicaljournals.se]

In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. [en.wikipedia.org]

• Developmental Disorder

  Cardiofaciocutaneous (CFC) syndrome is one of the developmental disorders caused by a dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway. [karger.com]

  [from GeneReviews] From OMIM Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental [ncbi.nlm.nih.gov]

  Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 2007; 7:295–308. CrossRef PubMed CAS Google Scholar Sarkozy A, Conti E, Digilio MC et al. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. [link.springer.com]

  Discussion Epilepsy represents a major clinical issue in CFCS, a developmental disorder caused by activating de novo BRAF mutations. [mdpi.com]

• Pulmonary Valve Stenosis

  Hypertrophic cardiomyopathy (71%) was diagnosed more often than pulmonary valve stenosis (35%). Multiple lentigines or café au lait spots were found in 84% of the series, and deafness was diagnosed in 3 patients. [revespcardiol.org]

  Clinical features of the RASopathies include short stature, cardiovascular defects (pulmonary valve stenosis and hypertrophic cardiomyopathy being the most common), cutaneous findings, and characteristic facies. [personalizedmedicine.partners.org]

  valve stenosis, variable intellectual development, and skin pigment changes.[20][21] Cardiofaciocutaneous (CFC) syndrome - CFC syndrome is very similar to Noonan's Syndrome due to similar cardiac and lymphatic features. [en.wikipedia.org]

  Heart defects include pulmonary valve stenosis (20%-50%), hypertrophic cardiomyopathy (20%-30%), atrial septal defects (6%-10%), ventricular septal defects (approximately 5%), and patent ductus arteriosus (approximately 3%). [logan.testcatalog.org]

• Swelling

  Symptoms of kidney failure may include: Itchy skin or rashes Muscle cramps Feeling sick to your stomach or throwing up Not feeling hungry than normal Swelling in your feet and ankles Urinating (peeing) more or less than normal Foamy, frothy or bubbly-looking [kidneyfund.org]

  Skin[edit] Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots [en.wikipedia.org]

• Failure to Thrive

  Failure to thrive MedGen UID: 746019 •Concept ID: C2315100 • Disease or Syndrome Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [ncbi.nlm.nih.gov]

  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]

  The second patient presented with severe features, including failure to thrive, feeding difficulties, epileptic spasms, septal hypertrophy, and global developmental delay, and developed chronic lung disease and sequelae from multiple infections. [karger.com]

  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). [medlineplus.gov]

• Vomiting

  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]

  The following are some symptoms of Chiari malformation: headache neck pain dizziness swallowing or breathing problems balance problems weakness of the muscles tinnitus and hearing problems nausea excessive vomiting or drooling scoliosis psychological [medicalnewstoday.com]

  […] syndrome ICD 10: G43.A0 Synonyms: Cyclical vomiting, not intractable; persistent vomiting, cyclical; cyclic vomiting, psychogenic Disease name: De Barsy syndrome ICD 10: Q87.7; OMIM 614438 Synonyms: DBS, De Barsy-Moens-Dierckx syndrome, Progeroid syndrome [orphananesthesia.eu]

  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). [rarediseases.org]

  These include swallowing difficulties, low gut motility, gastroparesis (delayed gastric emptying), intestinal malrotation, and frequent or forceful vomiting. [en.wikipedia.org]

• Nausea

  The following are some symptoms of Chiari malformation: headache neck pain dizziness swallowing or breathing problems balance problems weakness of the muscles tinnitus and hearing problems nausea excessive vomiting or drooling scoliosis psychological [medicalnewstoday.com]

  Symptoms, due to the impaired function of nerve or enteric smooth muscle, include nausea, vomiting, bloating, constipation, abdominal distention, abnormal digestive and intestinal mobility (peristalsis), abdominal pain, malnutrition. [chginc.org]

• Psychomotor Retardation

  A syndrome of hypersensitivity to sunlight, dwarfism, microcephaly, psychomotor retardation, prematurely senile appearance, and retinal pigmentation. [icd10data.com]

  The common features in this disorder include large head, bitemporal constriction, anti-mongoloid slant of palpebral fissures, large and low-set ears, skin keratosis, congenital heart defects and psychomotor retardation. [ispub.com]

  Three patients were diagnosed with hearing loss, but a sensorineural component was only observed in 1 individual (5%; 95%CI, 0.1%-26%); 7 patients had psychomotor retardation (37%; 95%CI, 16.3%-61.6%), although it was only mild in all cases. [revespcardiol.org]

• Aura

  […] top CADASIL GENE: NOTCH3 CHROMOSOMAL LOCATION: 19p13.2-p13.1 MODE OF INHERITANCE: autosomal dominant Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by a history of migraine with aura [chginc.org]

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

Your treatment will depend on how the condition is affecting you While there is currently no cure for ME/CFS, there are treatments that may help you manage the condition. [nhs.uk]

If the condition does not cause a person any problems, they will not require treatment. However, if it is affecting them, a doctor can recommend treatment options ranging from medication to surgery. [medicalnewstoday.com]

If you choose not to get treatment for kidney failure, you can get medical management. This is supportive care and treatment to relieve your symptoms, but it will not keep you alive. [kidneyfund.org]

The usual treatment for high blood pressure doesn’t generally help treat hyperaldosteronism. [urologyhealth.org]

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

Suspected based on symptoms, confirmed with genetic testing[4][2] Differential diagnosis Cardiofaciocutaneous syndrome, Turner syndrome, Costello syndrome, neurofibromatosis type 1[2][3] Treatment Based on the symptoms[3] Medication Growth hormone[3] Prognosis [en.wikipedia.org]

Prognosis of CFC syndrome is fair. Children with this syndrome usually lead a normal life span. The risk of recurrence of CFC syndrome is 1-3 % in siblings. But this risk increases to 50% in offspring of affected individuals. [ispub.com]

PMID: 19804494 Prognosis Jelin AC, Mahle A, Tran SH, Sparks TN, Rauen KA Am J Med Genet A 2023 Feb;191(2):323-331. Epub 2022 Oct 29 doi: 10.1002/ajmg.a.63020. [ncbi.nlm.nih.gov]

Conclusion The RASopathies have complex genetic heterogeneity and marked overlapping features, however, a relatively correct diagnosis is essential for genetic counseling regarding prognosis (as the diagnosis of milder phenotypes, including NFLS or mosaic [spandidos-publications.com]

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]

Maternal uniparental disomy for chromosome 7 is known to play a role in its etiology. [icd10data.com]

To this point, individuals with a clinical diagnosis of one of the RASopathies have had a molecular etiology that is not consistent with their clinical diagnosis. [personalizedmedicine.partners.org]

PMID: 26607044 Etiology Siano MA, Pivonello R, Salerno M, Falco M, Mauro C, De Brasi D, Klain A, Sestito S, De Luca A, Pinna V, Simeoli C, Concolino D, Mainolfi CG, Mannarino T, Strisciuglio P, Tartaglia M, Melis D Front Endocrinol (Lausanne) 2022;13: [ncbi.nlm.nih.gov]

Arrhythm Electrophysiol 2012; 5: 868–877.10.1161/CIRCEP.111.962019CrossRefGoogle Scholar Abe, Y, Aoki, Y, Kuriyama, S, et al.Prevalence and clinical features of Costello syndrome and cardio-faciocutaneous syndrome in Japan: findings from a nationwide epidemiological [cambridge.org]

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]

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 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11. [medlineplus.gov]

Epidemiology Noonan syndrome: 1/1,000–1/2,500 Neurofibromatosis type 1: ~1/3,000 Noonan syndrome with multiple lentigines, cardio-facio-cutaneous, Costello, and Legius syndromes, Baraitser-Winter syndrome, Aarskog-Scott syndrome and SBBYSS syndrome: rare [personalizedmedicine.partners.org]

Scholar : PubMed/NCBI 41 Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, et al: Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological [spandidos-publications.com]

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

Individual usually needs hands-on assistance when rising to a standing position or moving into a wheelchair to prevent losing balance or falling. Individual is able to help with the transfer by holding on and supporting him or herself. [hhs.texas.gov]

[…] counseling regarding prognosis (as the diagnosis of milder phenotypes, including NFLS or mosaic NF1, may relieve the psychological burden on serious age-dependent complications); monitoring of potential risks, including cancer and cardiac events; and prevention [spandidos-publications.com]

For some samples, the same or similar number of CAG triplet repeats in the androgen receptor gene on both copies of the X chromosome prevents the determination of the X- inactivation ratio. [chginc.org]