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Fibrochondrogenesis

2 OMIM references -
2 associated genes
30 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 8

Kniest dysplasia

1 OMIM reference -
1 associated gene
38 signs/symptoms

Fibrochondrogenesis

Kniest dysplasia

COL11A1	(UniProt - OMIM)		COL2A1	(UniProt - OMIM)
COL11A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A1 COL11A2	(0.52) (0.52)	COL2A1 COL2A1

Citations in the biomedical literature:

Fibrochondrogenesis		Kniest dysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537207


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed nasal bridge - Mesomelic micromelia - Metaphyseal anomaly - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Round face - Short stature / dwarfism / nanism

Fibrochondrogenesis		Kniest dysplasia
	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 - Narrow rib cage / thorax - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short neck - Stillbirth / neonatal death Frequent - Absent / small fingernails / anonychia of hands - Anomalies of ear and hearing - Anteverted nares / nostrils - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Camptodactyly of fingers - Hypertelorism - Omphalocele / exomphalos - Plagiocephaly		Very frequent - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Joint / articular deformation - Kyphosis - Lordosis - Mid-facial hypoplasia / short / small midface - Myopia - Osteoarthritis - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Retinopathy - Rhizomelic micromelia - Scoliosis - Short rib cage / thorax - Vitreous anomalies / hyalitis / persistent vitreous vascularisation - Wide rib cage / thorax Frequent - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Retinal detachment Occasional - Cataract / lens opacification - Glaucoma - Glossoptosis - Lens dislocation / luxation / subluxation / ectopia lentis - Micrognathia / retrognathia / micrognathism / retrognathism - Ptosis - Tracheal atresia / stenosis - Tracheomalacia / tracheobronchomalacia