Cytoscape Web
Click node...


2 OMIM references -
1 associated gene
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
1 OMIM reference -
1 associated gene
26 signs/symptoms
Cleidocranial dysplasia
X-linked dominant chondrodysplasia, Chassaing-Lacombe type

RUNX2 HDAC6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RUNX2
(0.84)
HDAC6



Citations in the biomedical literature:


Cleidocranial dysplasia
RUNX2
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
HDAC6



Cleidocranial dysplasia
X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Synonym(s):
- Cleidocranial dysostosis

Synonym(s):
- X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- 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: x-linked dominant

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


COMMON
SIGNS
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Frontal bossing / prominent forehead
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Short hand / brachydactyly
- Short stature / dwarfism / nanism


Cleidocranial dysplasia
X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Very frequent
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Clavicle absent / abnormal
- High vaulted / narrow palate
- Hypertelorism
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Narrow / sloping shoulders
- Repeat respiratory infections
- 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
- Sloping forehead
- Small face

Occasional
- Apnea / sleep apnea
- Brachycephaly / flat occiput
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Epiphyseal anomaly
- Genu valgum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Motor deficit / trouble
- Mutiple fractures / bone fragility
- Scoliosis
- Tapered fingers
- Thumb anomalies (excluding hypoplasia)


Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Flattened nose
- Hydrocephaly
- Low set ears / posteriorly rotated ears
- Metacarpal anomalies / Archibald's sign
- Platyspondyly
- Rhizomelic micromelia
- Short foot / brachydactyly of toes
- Short / small nose
- X-linked dominant inheritance

Frequent
- Ankle anomalies
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Death in infancy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Rib structure anomalies

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macrostomia / big mouth
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short philtrum