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1 OMIM reference -
2 associated genes
46 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
5 associated genes
31 signs/symptoms
Costello syndrome
Diffuse cutaneous systemic sclerosis

HRAS CAV1
KRAS CCR6
CTGF
HLA-DRB1
IRF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
(0.66)
CAV1



Citations in the biomedical literature:


Costello syndrome
HRAS KRAS
Diffuse cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5



Costello syndrome
Diffuse cutaneous systemic sclerosis

Synonym(s):
- FCS syndrome
- Faciocutaneoskeletal syndrome
- Intellectual deficit - nasal papillomata

Synonym(s):
- Diffuse cutaneous systemic scleroderma
- Progressive cutaneous systemic scleroderma
- Progressive cutaneous systemic sclerosis

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: D056685
External references:
No OMIM references
No MeSH references


COMMON
SIGNS
- Anomalies of skin, subcutaneous tissue and mucosae
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Tendon rupture / tendinitis / bursitis / tenosynovitis


Costello syndrome
Diffuse cutaneous systemic sclerosis

Very frequent
- Acanthosis nigricans
- Antenatal exposure : alcohol
- Delayed bone age
- Depressed nasal bridge
- Enamel anomaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pulmonary valve atresia / stenosis / narrowing
- Short neck
- Short stature / dwarfism / nanism
- Thin / hypoplastic / hyperconvex fingernails
- Tight skin / lack of elasticity
- Ventricular septal defect / interventricular communication
- Woolly / frizzy hair

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal dermatoglyphics
- Broad cheeks / cherub-like / cherubin face
- Cardiomyopathy / hypertrophic / dilated
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Epicanthic folds
- Excess nuchal skin without pterygium colli
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Keratoconus / keratoglobus
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Polyhydramnios
- Strabismus / squint
- Thick lips
- Thin / hypoplastic toenails
- Ulnar deviation of fingers
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Warts / papillomas

Occasional
- Coarse face
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Hair and scalp anomalies
- Large face
- Low set ears / posteriorly rotated ears
- Thick / wide ear lobe


Very frequent
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Autoimmunity / autoimmune reaction / autoantibodies
- Dermal / subcutaneous infiltration / induration
- Dry / squaly skin / exfoliation
- Lung / pulmonary infiltrates
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Radiologic lung abnormalities / changes
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Frequent
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Dyspareunia / coital pain / vaginal dryness
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Mouth dryness / xerostomia
- Multiple caries
- Muscle weakness / flaccidity
- Osteolysis / osteoclasia / bone destruction / erosions
- Telangiectasiae of the skin

Occasional
- Acute arterial hypertension / hypertensive crisis
- Heart / cardiac failure
- Intestinal transit disorder
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Periarticular tissue anomaly / extraarticular calcifications
- Pulmonary hypertension
- Renal failure