ODCs

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Fibrochondrogenesis

2 OMIM references -
2 associated genes
30 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Autosomal recessive Stickler syndrome

2 OMIM references -
4 associated genes
17 signs/symptoms

Fibrochondrogenesis

Autosomal recessive Stickler syndrome

COL11A1	(UniProt - OMIM)	COL11A1	(UniProt - OMIM)
COL11A2	(UniProt - OMIM)	COL9A1	(UniProt - OMIM)
		COL9A2	(UniProt - OMIM)
		COL9A3	(UniProt - OMIM)


COMMON GENES	COL11A1

Citations in the biomedical literature:

Fibrochondrogenesis		Autosomal recessive Stickler syndrome

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Abnormal vertebral size / shape - Autosomal recessive inheritance - Short stature / dwarfism / nanism

Fibrochondrogenesis		Autosomal recessive Stickler syndrome
	Very frequent - Anomalies of the ribs - 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 - 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		Very frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat face - Genu valgum - Sensorineural deafness / hearing loss Frequent - Astigmatism - Epiphyseal anomaly - Hyperextensible joints / articular hyperlaxity - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Myopia - Platyspondyly - Retinitis pigmentosa / retinal pigmentary changes - Retinopathy - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation