Cardio-facio-cutaneous, syndrome
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[MIM 115 150, 615 278, 615 279, 615 280]
Extremely rare. This syndrome is phenotypically close to the Noonan and Costello syndromes (see these terms) and is part of the family of the RASopathies (see this term). A sporadic mutation of one of the following genes causes this syndrome: BRAF (> 80 %), MEK1 (MAP2K1) or 2 (MAP2K2), or KRAS.
Clinical picture:
- facial anomalies: relative macrocephaly with a broad forehead, hypertelorism, ptosis, abnormalities of the outer ear, down- or backslanting palpebral fissures
- heart defects (75%): pulmonary stenosis (40%); ASD, VSD, hypertrophic cardiomyopathy (40%)
- skin abnormalities: hyperkeratosis with sometimes ichthyosis; eczematous lesions; rare or even eyelashes and eyebrows; absent, sparse and curly hair
- mental retardation
- neonatal period: polyhydramnios, prematurity, hyponatremia, feeding difficulties, systemic hypertension, respiratory difficulties
but also:
- nystagmus or strabismus, small optic nerve
- short hands with deep skin creases
- hypotonia, hydrocephalus, convulsions; sometimes Arnold-Chiari malformation (see this term)
- severe feeding difficulties resulting in a failure to thrive (sometimes < 5 percentile)
- intestinal malrotation
- gastro-esophageal reflux
- tendency to develop benign (giant cell tumors) or malignant (hepatoblastoma, lymphoma, acute lymphoblastic leukemia) tumors
Anesthetic implications:
echocardiography, blood formula; mental retardation, small stature; caution in mobilizing the occipital-cervical junction if there is an Arnold-Chiari malformation.
References :
- Verloes A, Cave H. Syndrome de Noonan et RASopathies apparentées,
In Syndromes dysmorphiques, édité par D Lacombe et N Philip, Série Progrès en Pédiatrie, Doin 2013, p 13-26.
- Ramsey KNW, Loichinger MH, Slavin T, Kuo S, Seaver LH.
The perinatal presentation of craniofaciocutaneous syndrome.
Am J Med Genet Part A 2014; 164A: 2036-42.
- Lam H, Dare S, Nguyen T, Austin T.
Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome.
A&A Case Reports 2015; 4: 95-6
Updated: November 2019