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Fibrochondrogenesis

2 OMIM references -
2 associated genes
30 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Stickler syndrome type 2

1 OMIM reference -
1 associated gene
8 signs/symptoms

Fibrochondrogenesis

Stickler syndrome type 2

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


COMMON GENES	COL11A1

Citations in the biomedical literature:

Fibrochondrogenesis		Stickler syndrome type 2

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537493


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula

Fibrochondrogenesis		Stickler syndrome type 2
	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 - 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		Very frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Myopia - Retinal detachment - Sensorineural deafness / hearing loss - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Frequent - Retinopathy