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Cardiofaciocutaneous syndrome
4 OMIM references -
4 associated genes
78 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 20
Proteus syndrome
1 OMIM reference -
2 associated genes
96 signs/symptoms
Cardiofaciocutaneous syndrome
Proteus syndrome

BRAF
(UniProt - OMIM)
 AKT1
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
 PTEN
(UniProt - OMIM)
MAP2K1
(UniProt - OMIM)
MAP2K2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BRAF
(0.65)
AKT1


Citations in the biomedical literature:


Cardiofaciocutaneous syndrome
BRAF KRAS MAP2K1 MAP2K2
Proteus syndrome
AKT1 PTEN



Cardiofaciocutaneous syndrome
Proteus syndrome

Synonym(s):
- CFC syndrome
Synonym(s):
- Partial gigantism - nevi - hemihypertrophy - macrocephaly
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
4 OMIM references -
1 MeSH reference: C535579
External references:
1 OMIM reference -
1 MeSH reference: D016715
COMMON
SIGNS 		- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Cafe-au-lait spot
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Congenital cardiac anomaly / malformation / cardiopathy
- Depressed nasal bridge
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long face
- Low set ears / posteriorly rotated ears
- Lymphedema
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Myopia
- Ptosis
- Scoliosis
- Strabismus / squint

Cardiofaciocutaneous syndrome
Proteus syndrome

Very frequent
- Absent / decreased / thin eyebrows
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of eyes and vision
- Atrial septal defect / interauricular communication
- Brittle hair / distrix / trichorrhexis
- Broad cheeks / cherub-like / cherubin face
- Cardiac valvulopathy
- Coarse face
- Dry / squaly skin / exfoliation
- Euryblepharon / wide palpebral fissures
- Fine hair
- Flat supraorbital ridge
- Hairy patch
- Helix thickened / sculpted
- Hypotonia
- Palmoplantar hyperkeratosis / keratoderma
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Rippled skin
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Absent / decreased lashes
- Deep palmar creases
- Dysplastic / thick / grooved fingernails
- EEG anomalies
- Epicanthic folds
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- High forehead
- High vaulted / narrow palate
- Hyperelastic skin / cutaneous hyperlaxity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis
- Long philtrum
- Long / large ear
- Low hair line (back)
- Narrow forehead
- Nystagmus
- Pectus excavatum
- Prematurity
- Short neck
- Short / small nose
- slow growth of the hair
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Webbed neck / pterygium colli

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Cubitus valgus
- Elocution disorders / dysarthria / dysphonia
- Functional anomalies of the digestive system
- Genu valgum
- Hydrocephaly
- Late puberty / hypogonadism / hypogenitalism
- Loose skin / skin relaxation / excess skin / creases
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Structural anomalies of the digestive tract


Very frequent
- Abnormal fat distribution / lipodystrophy
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Abnormal vertebral size / shape
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Asymmetric rib cage / thorax
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Follicular / erythematous / edematous papules / milium
- Irregular / in bands / reticular skin hyperpigmentation
- Kyphosis
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lymphangioma / lymphatic malformations
- Macrodactyly / fingers hypertrophy / megalodactyly (hand)
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Pigmented naevi / naevus pigmentosus / lentigo
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Tall stature / gigantism / growth acceleration
- Thick skin / pachydermia / orange skin
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Vascular anomalies of skin / mucosae
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Xanthomas / lipomas

Frequent
- Bronchogenic cyst
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Dolichocephaly / scaphocephaly
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hyperostosis
- Pulmonary thromboembolism
- Syndactyly of fingers / interdigital palm
- Visceral angiomatosis (excluding skin)

Occasional
- Abnormal / polycystic ovaries
- Anodontia / oligodontia / hypodontia
- Anomalies of the neck
- Arterial embolism / thrombosis
- Buphthalmos
- Cataract / lens opacification
- Clinodactyly of fifth finger
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Craniostenosis / craniosynostosis / sutural synostosis
- Enamel anomaly
- Exostoses
- External auditory canal atresia / stenosis / agenesis
- Flared / thick ala nasi
- Follicular / conjunctival hamartomas
- Glaucoma
- Hallux valgus
- Heterochromia / mixed colouring of iris
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hirsutism / hypertrichosis / Increased body hair
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Macroorchidism / macrotestes
- Macropenis / megapenis / large penis
- Meningioma
- Multiple caries
- Myopathy
- Nails anomalies
- Oropharyngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Proptosis / exophthalmos
- Renal cyst (single)
- Restricted joint mobility / joint stiffness / ankylosis
- Retinal detachment
- Retinal hamartoma
- Retinitis pigmentosa / retinal pigmentary changes
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sirenomelia / mermaid / lower limb fusion
- Splenomegaly
- Structural and functional anomalies of the spleen
- Talipes-valgus
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Thymic hyperplasia
- Thymus / thymic neoplasm / tumor / carcinoma / cancer / thymoma
- Venous thrombosis / phlebitis / thrombophlebitis
- Wrist / carpal anomalies