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Fibrochondrogenesis

2 OMIM references -
2 associated genes
30 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Marshall syndrome

1 OMIM reference -
1 associated gene
41 signs/symptoms

Fibrochondrogenesis

Marshall syndrome

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


COMMON GENES	COL11A1

Citations in the biomedical literature:

Fibrochondrogenesis		Marshall 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 skin 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: neonatal/infancy 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: C536025


COMMON SIGNS	- Anteverted nares / nostrils - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed nasal bridge - Hypertelorism - Proptosis / exophthalmos - Short stature / dwarfism / nanism

Fibrochondrogenesis		Marshall syndrome
	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 - 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 - 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 - Mesomelic micromelia - Omphalocele / exomphalos - Plagiocephaly		Very frequent - Anomalies of teeth and dentition - Articular / joint pain / arthralgia - Autosomal dominant inheritance - Brachycephaly / flat occiput - Broad nose / nasal bridge - Cataract / lens opacification - Depressed premaxillary region / midface - Flat cheek bones / malar hypoplasia - Flat face - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - Myopia - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Sensorineural deafness / hearing loss - Thick lips Frequent - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Frontal sinus agenesis / anomaly - Genu valgum - Glaucoma - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intracranial / cerebral calcifications - Lens dislocation / luxation / subluxation / ectopia lentis - Mild visual loss / impaired visual acuity - Osteoarthritis - Retinal detachment - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Occasional - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Frontal bossing / prominent forehead - High vaulted / narrow palate - Nystagmus - Strabismus / squint