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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
30 signs/symptoms
Atelosteogenesis type I
Fibrochondrogenesis

FLNB COL11A1
COL11A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.63)
COL11A2



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
Fibrochondrogenesis
COL11A1 COL11A2



Atelosteogenesis type I
Fibrochondrogenesis

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
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:
1 OMIM reference -
1 MeSH reference: C535396
External references:
2 OMIM references -
No MeSH references

Fibrochondrogenesis

Very frequent
- Abnormal vertebral size / shape
- Anomalies of the ribs
- Autosomal recessive inheritance
- Diaphyseal anomaly
- Flared chest / bell-shaped thorax / shield chest
- Large fontanelle / delayed fontanelle closure
- Metaphyseal anomaly
- Narrow rib cage / thorax
- Proptosis / exophthalmos
- Round face
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short neck
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death

Frequent
- Absent / small fingernails / anonychia of hands
- Anomalies of ear and hearing
- Anteverted nares / nostrils
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Depressed nasal bridge
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly

Occasional
- Camptodactyly of fingers
- Hypertelorism
- Mesomelic micromelia
- Omphalocele / exomphalos
- Plagiocephaly


Atelosteogenesis type I

(no data available)