ODCs

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Marshall syndrome

1 OMIM reference -
1 associated gene
41 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11

Spondyloepiphyseal dysplasia congenita

1 OMIM reference -
1 associated gene
26 signs/symptoms

Marshall syndrome

Spondyloepiphyseal dysplasia congenita

COL11A1

(UniProt - OMIM)

COL2A1

(UniProt - OMIM)


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

Citations in the biomedical literature:

Marshall syndrome		Spondyloepiphyseal dysplasia congenita
	Synonym(s): (no synonyms)		Synonym(s): - Congenital spondyloepiphyseal dysplasia - SEDC - Spranger-Wiedemann disease

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

	External references: 1 OMIM reference - 1 MeSH reference: C536025		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat face - Glaucoma - Hypertelorism - Myopia - Nystagmus - Osteoarthritis - Retinal detachment - Short stature / dwarfism / nanism

Marshall syndrome		Spondyloepiphyseal dysplasia congenita
	Very frequent - Anomalies of teeth and dentition - Anteverted nares / nostrils - Articular / joint pain / arthralgia - Brachycephaly / flat occiput - Broad nose / nasal bridge - Depressed nasal bridge - Depressed premaxillary region / midface - Flat cheek bones / malar hypoplasia - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - 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 - 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 - 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 - Strabismus / squint		Very frequent - Abnormal vertebral size / shape - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax Frequent - Broad forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Lordosis - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus Occasional - Hearing loss / hypoacusia / deafness - Kyphosis - Scoliosis