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Fibrochondrogenesis
2 OMIM references -
2 associated genes
33 connected diseases
30 signs/symptoms
Disease Type of connection
Otospondylomegaepiphyseal dysplasia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive Stickler syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Marshall syndrome
Stickler syndrome type 2
Stickler syndrome type 3
Weissenbacher- Zweymuller syndrome
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2
Familial avascular necrosis of femoral head
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
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: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL11A1 P12107120280
COL11A2 P13942120290
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