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Marshall syndrome

1 OMIM reference -
1 associated gene
41 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

Ehlers-Danlos syndrome type 1

1 OMIM reference -
3 associated genes
29 signs/symptoms

Marshall syndrome

Ehlers-Danlos syndrome type 1

COL11A1	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
			COL5A1	(UniProt - OMIM)
			COL5A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A1 COL11A1	(0.52) (0.52)	COL5A1 COL5A2

Citations in the biomedical literature:

Marshall syndrome		Ehlers-Danlos syndrome type 1
	Synonym(s): (no synonyms)		Synonym(s): - EDS I

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease - Rare surgical thoracic disease - Rare systemic or rheumatologic 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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536025		External references: 1 OMIM reference - 1 MeSH reference: C536194


COMMON SIGNS	- Autosomal dominant inheritance - Retinal detachment

Marshall syndrome		Ehlers-Danlos syndrome type 1
	Very frequent - Anomalies of teeth and dentition - Anteverted nares / nostrils - Articular / joint pain / arthralgia - Brachycephaly / flat occiput - Broad nose / nasal bridge - Cataract / lens opacification - Depressed nasal bridge - Depressed premaxillary region / midface - Flat cheek bones / malar hypoplasia - Flat face - Hypertelorism - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - Myopia - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Thick lips Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - 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 - Proptosis / exophthalmos - 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		Very frequent - Hyperextensible joints / articular hyperlaxity - Joint dislocation / subluxation - Skin hypoplasia / aplasia / atrophy - Thin skin Frequent - Aortic dilatation / dilation - Bruisability - Diaphragmatic hernia / defect / agenesis - Flat foot - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Genu recurvatum - Hallux valgus - Herniae - Inguinal / inguinoscrotal / crural hernia - Pectus carinatum - Pectus excavatum - Scoliosis - Umbilical hernia - Varices / varicous veins / venous insufficiency Occasional - Aortic dissection - Bladder / vesical diverticulum - Cardiac valvulopathy - Chronic arterial hypertension - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Oral synechiae / abnormal frenulae - Peritonitis / peritoneal abscess - Recurrent urinary infections - Skin tumors / lumps / epidermal cysts