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1 OMIM reference -
2 associated genes
46 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
1 OMIM reference -
1 associated gene
29 signs/symptoms
Costello syndrome
Watson syndrome

HRAS NF1
KRAS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
(0.72)
NF1



Citations in the biomedical literature:


Costello syndrome
HRAS KRAS
Watson syndrome
NF1



Costello syndrome
Watson syndrome

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

Synonym(s):
- Pulmonic stenosis with 'cafe-au-lait' spots

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 developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical cardiac disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Epicanthic folds
- Excess nuchal skin without pterygium colli
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short neck
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Costello syndrome
Watson syndrome

Very frequent
- Acanthosis nigricans
- Anomalies of skin, subcutaneous tissue and mucosae
- 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
- 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
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hyperextensible joints / articular hyperlaxity
- Keratoconus / keratoglobus
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Polyhydramnios
- Strabismus / squint
- Tendon rupture / tendinitis / bursitis / tenosynovitis
- Thick lips
- Thin / hypoplastic toenails
- Ulnar deviation of fingers
- Warts / papillomas

Occasional
- Coarse face
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hair and scalp anomalies
- Large face
- Low set ears / posteriorly rotated ears
- Thick / wide ear lobe


Very frequent
- Autosomal dominant inheritance
- Broad forehead
- Cafe-au-lait spot
- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Excessive freckling
- Hypertelorism
- Philtrum deeply grooved
- Philtrum flat / large / featureless / absent cupidon bows
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches

Frequent
- Congenital cardiac anomaly / malformation / cardiopathy
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Long / large ear
- Pectus excavatum
- Puffy eyelids
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Triangular face

Occasional
- Hypotonia
- Kyphosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia