Costello syndrome


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Costello syndrome

A rare hereditary disease (OMIM:218040) that overlaps cardiofaciocutaneous and Noonan syndromes, characterised by excess prenatal and defective postpartum growth, mental retardation, characteristic coarse facies, short stature, cardiovascular defects (e.g., pulmonary stenosis, hypertrophic cardiomyopathy, atrial tachycardia), increased risk of papillomas and rhabdomyosarcomas, and cutaneous and musculoskeletal defects.

Molecular pathology
Defects in HRAS, an oncogene on chromosome 11p15.5 whose protein product plays key roles in signal transduction, cause Costello syndrome.

Costello,

J.M., New Zealand physician.
Costello syndrome - syndrome of postnatal growth deficiency, mental subnormality, depressed nasal bridge, curly hair, short neck, cardiomyopathy, and other abnormalities.
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References in periodicals archive ?
Last summer, my family traveled from Austin, Texas to Orlando, Florida for the 8th International Costello Syndrome Family Forum.
She is a board member of the Costello Syndrome Family Network and writes blog posts for www.
Bill Tidyman, our caring and compassionate genetic counselors, Andrea Zanko and Vicki Cox, who supported the new and novel NF/Ras Clinic providing best practices for the RASopathy patients worldwide, and the dedicated families of CFC International, the Costello Syndrome Family Network/CostelloKids.
The College Ystrad Mynach student was born with a rare condition called costello syndrome, meaning he struggles with speech and the ability to walk far.
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
The couple had two small daughters; the younger having Costello Syndrome, a rare genetic disorder, with only 200-300 cases reported worldwide.
These mutations have been linked to rare developmental diseases such as achondroplasia and Costello syndrome.
Helaina is one of a handful of children in Britain to suffer from Costello syndrome - a rare genetic condition that causes physical disabilities, learning difficulties and speech problems.
But tragically, Costello syndrome is life-limiting and we don't know how long we'll have her.
Catrin was born with Costello Syndrome, which can damage the heart,brain and growth of a child.
Nicole was diagnosed with Costello syndrome, a rare genetic disorder.
The new discovery might provide an insight into the origins of several serious conditions that affect childhood growth and development like achondroplasia and Apert, Noonan and Costello syndromes, as well as some conditions causing stillbirth.