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Distal 22q11.2 microdeletion syndrome
1 OMIM reference -
3 associated genes
60 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7
Costello syndrome
1 OMIM reference -
2 associated genes
46 signs/symptoms
Distal 22q11.2 microdeletion syndrome
Costello syndrome

BCR
(UniProt - OMIM)
 HRAS
(UniProt - OMIM)
CRKL
(UniProt - OMIM)
 KRAS
(UniProt - OMIM)
MAPK1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MAPK1
(0.63)
KRAS


Citations in the biomedical literature:


Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1
Costello syndrome
HRAS KRAS



Distal 22q11.2 microdeletion syndrome
Costello syndrome

Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2
Synonym(s):
- FCS syndrome
- Faciocutaneoskeletal syndrome
- Intellectual deficit - nasal papillomata
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D056685
COMMON
SIGNS 		- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism
- Ulnar deviation of fingers
- Ventricular septal defect / interventricular communication

Distal 22q11.2 microdeletion syndrome
Costello syndrome

Very frequent
- High arched eyebrows
- Insterstitial / subtelomeric microdeletion / deletion
- Philtrum flat / large / featureless / absent cupidon bows
- Prematurity
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Clinodactyly of fifth finger
- Common arterial trunk / truncal valve
- Deepset eyes / enophthalmos
- External ear anomalies
- Flat foot
- Intrauterine growth retardation
- Microcephaly
- Pointed chin
- Thin / hypoplastic ala nasi
- Thin / retracted lips

Occasional
- Ankyloglossia / lingual synechiae
- Aortic root dilatation / dilation / aneurysm
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Bowed diaphysis / diaphyses / long bones
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Camptodactyly of some fingers
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Encopresis / fecal incontinence
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Flat cheek bones / malar hypoplasia
- Gastric / pyloric stenosis
- High nasal bridge
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Inguinal / inguinoscrotal / crural hernia
- Long face
- Long hand / arachnodactyly
- Lordosis
- Microstomia / little mouth
- Obsessive-compulsive disorder
- Oculomotor apraxia / dyspraxia
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Syndactyly of toes
- Terminal / third phalangeal bone of fingers hypoplasia
- Tics / stereotypias
- Wide space between 1st-2nd toes


Very frequent
- Acanthosis nigricans
- Anomalies of skin, subcutaneous tissue and mucosae
- Antenatal exposure : alcohol
- Delayed bone age
- Depressed nasal bridge
- Enamel anomaly
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pulmonary valve atresia / stenosis / narrowing
- Short neck
- Thin / hypoplastic / hyperconvex fingernails
- Tight skin / lack of elasticity
- 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
- 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
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- 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