Costello syndrome

Preferred Label : Costello syndrome;

Symbol : CSTLO;

CISMeF acronym : CMEMS; CSTLO;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Faciocutaneoskeletal syndrome; Fcs syndrome;

Included titles and symbols : Myopathy, congenital, with excess of muscle spindles; CMEMS;

Description : Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability. Facial warts, particularly nasolabial, are often present in childhood (Kerr et al., 2006). In patients with a clinical diagnosis of Costello syndrome, Zenker et al. (2007) identified mutations in the KRAS gene, but noted that these patients may later develop features of CFC syndrome. In either case, the findings underscore the central role of Ras in the pathogenesis of these phenotypically related disorders (Zenker et al., 2007). However, Kerr et al. (2008) commented that the diagnosis of Costello syndrome should only be used to refer to patients with mutations in the HRAS gene.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the V-Ha-RAS Harvey rat sarcoma viral oncogene homolog gene (HRAS, 190020.0001);

Neoplasia : Epithelioma; Bladder carcinoma; Rhabdomyosarcoma; Vestibular schwannoma;

Laboratory abnormalities : Hypoglycemia;

Prefixed ID : #218040;

Details

Origin ID

218040;

UMLS CUI

C0587248;

Automatic exact mappings (from CISMeF team)
- Costello syndrome [ICD-11 More detail]
- myopathy, congenital, with excess of muscle spindles [MeSH concept]
- myopathy, congenital, with excess of muscle spindles [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Costello Syndrome [NCIt concept]
- Costello syndrome [PASCAL descriptor]
- Costello syndrome [DO Concept]
- Costello syndrome [Disease (Nov.)]
- Costello syndrome [MedDRA Preferred Term]
- Costello syndrome [ORDO Disease]
- Costello syndrome (disorder) [SNOMED CT concept]
- costello syndrome [MeSH Descriptor]
- costello syndrome [MeSH concept]
DO Cross reference
- Costello syndrome [DO Concept]
Genes related to phenotype
- Hras protooncogene, gtpase [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Achilles tendon contracture [HPO term]
- Anteverted nares [HPO term]
- Arrhythmia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Bladder carcinoma [HPO term]
- Bronchomalacia [HPO term]
- Cerebral atrophy [HPO term]
- Chiari type I malformation [HPO term]
- Coarse facial features [HPO term]
- Concave nail [HPO term]
- Curly hair [HPO term]
- Deep palmar crease [HPO term]
- Deep plantar creases [HPO term]
- Deep-set nails [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Enlarged cerebellum [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Flattened nasal bridge [HPO term]
- Fragile nails [HPO term]
- Full cheeks [HPO term]
- Full lips [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hoarse voice [HPO term]
- Hydrocephalus [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoglycemia [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Limited elbow movement [HPO term]
- Low-set ears [HPO term]
- Lymphangiectasis [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Micrognathia [HPO term]
- Mitral valve prolapse [HPO term]
- Nevus [HPO term]
- Obstructive sleep apnea [HPO term]
- Overgrowth [HPO term]
- Pectus carinatum [HPO term]
- Pneumothorax [HPO term]
- Pointed chin [HPO term]
- Polyhydramnios [HPO term]
- Poor suck [HPO term]
- Posteriorly rotated ears [HPO term]
- Premature birth [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Pyloric stenosis [HPO term]
- Redundant neck skin [HPO term]
- Renal insufficiency [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Rhabdomyosarcoma [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Sudden death [HPO term]
- Talipes equinovarus [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin nail [HPO term]
- Tracheomalacia [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Vestibular Schwannoma [HPO term]
- Webbed neck [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Costello syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Costello Syndrome [NCIt concept]
- Costello syndrome [MedDRA Preferred Term]
- Costello syndrome [ORDO Disease]
- Costello syndrome [DO Concept]
- Costello syndrome [PASCAL descriptor]
- Costello syndrome [Disease (Nov.)]
- Costello syndrome (disorder) [SNOMED CT concept]
- costello syndrome [MeSH Descriptor]
- costello syndrome [MeSH concept]

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