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2 OMIM references -
1 associated gene
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
1 associated gene
31 signs/symptoms
Cleidocranial dysplasia
Blepharophimosis-intellectual deficit syndrome, SBBYS type

RUNX2 KAT6B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RUNX2
(0.7)
KAT6B



Citations in the biomedical literature:


Cleidocranial dysplasia
RUNX2
Blepharophimosis-intellectual deficit syndrome, SBBYS type
KAT6B



Cleidocranial dysplasia
Blepharophimosis-intellectual deficit syndrome, SBBYS type

Synonym(s):
- Cleidocranial dysostosis

Synonym(s):
- Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit
- SBBYSS
- Say-Barber-Biesecker-Young-Simpson syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
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 dominant

External references:
2 OMIM references -
1 MeSH reference: D002973
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Repeat respiratory infections
- Short stature / dwarfism / nanism
- Sloping forehead


Cleidocranial dysplasia
Blepharophimosis-intellectual deficit syndrome, SBBYS type

Very frequent
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Clavicle absent / abnormal
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Hypertelorism
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Narrow / sloping shoulders
- Supernumerary teeth / polyodontia
- Wormian bones

Frequent
- Anomalies of ear and hearing
- Anomalies of the ribs
- Chronic / relapsing otitis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dental malocclusion
- Hearing loss / hypoacusia / deafness
- Narrow rib cage / thorax
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Poorly ossified skull / calvarium
- Sacro-coccyx / sacrum anomaly
- Short hand / brachydactyly
- Small face

Occasional
- Apnea / sleep apnea
- Brachycephaly / flat occiput
- Epiphyseal anomaly
- Genu valgum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Motor deficit / trouble
- Mutiple fractures / bone fragility
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Scoliosis
- Tapered fingers
- Thumb anomalies (excluding hypoplasia)


Very frequent
- Blepharophimosis / short palpebral fissures
- Hypothyroidy
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent occiput / occipital bossing
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Antihelix anomaly
- Atrial septal defect / interauricular communication
- Atrioventricular canal
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Camptodactyly of some fingers
- Clinodactyly of fifth finger
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperextensible joints / articular hyperlaxity
- Insterstitial / subtelomeric microdeletion / deletion
- Microcephaly
- Patent ductus arteriosus
- Polyhydramnios
- Seizures / epilepsy / absences / spasms / status epilepticus
- Simian crease / transverse / unique palmar crease
- Ventricular septal defect / interventricular communication

Occasional
- Defect / anomaly of lacrimal system
- Oral cavity / tongue neoplasm / tumor / carcinoma / cancer