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GTR Home > Conditions/Phenotypes > Cardiofaciocutaneous syndrome 3

Cardiofaciocutaneous syndrome 3

Synonyms
MAP2K1-Related Cardiofaciocutaneous Syndrome

Summary

Excerpted from the GeneReview: Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis 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, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Katherine A Rauen
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Available tests

74 tests are in the database for this condition.

Clinical tests (74 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CFC3, MAPKK1, MEK1, MEL, MKK1, PRKMK1, MAP2K1
    Summary: mitogen-activated protein kinase kinase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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