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1 OMIM reference -
2 associated genes
46 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
4 OMIM references -
5 associated genes
36 signs/symptoms
Costello syndrome
Joubert syndrome with orofaciodigital defect

HRAS KIF7
KRAS OFD1
PDE6D
TCTN3
TMEM216


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
(0.75)
PDE6D



Citations in the biomedical literature:


Costello syndrome
HRAS KRAS
Joubert syndrome with orofaciodigital defect
KIF7 OFD1 PDE6D TCTN3 TMEM216



Costello syndrome
Joubert syndrome with orofaciodigital defect

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

Synonym(s):
- Joubert syndrome with oral-facial-digital syndrome
- OFD6
- Oral-facial-digital syndrome type 6
- Orofaciodigital syndrome type 6
- Polydactyly - cleft lip/palate - psychomotor retardation
- Váradi syndrome
- Váradi-Papp syndrome

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 bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Costello syndrome
Joubert syndrome with orofaciodigital defect

Very frequent
- Acanthosis nigricans
- Anomalies of skin, subcutaneous tissue and mucosae
- Antenatal exposure : alcohol
- Delayed bone age
- Depressed nasal bridge
- Enamel anomaly
- 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
- 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
- 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
- Thick / wide ear lobe


Very frequent
- Apnea / sleep apnea
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cleft / notched / bifid tongue
- Hypotonia
- Metacarpal anomalies / Archibald's sign
- Oculomotor apraxia / dyspraxia
- Oral synechiae / abnormal frenulae
- Polydactyly of toes
- Respiratory rhythm disorder
- Upper limb polydactyly / hexadactyly

Frequent
- Abnormal gait
- Cleft lip
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Long face
- Narrow forehead
- Nystagmus

Occasional
- Anteverted nares / nostrils
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalocele / exencephaly
- High arched eyebrows
- High nasal bridge
- Inguinal / inguinoscrotal / crural hernia
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Tremor