ODCs

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Spondyloperipheral dysplasia - short ulna

1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Marshall syndrome

1 OMIM reference -
1 associated gene
41 signs/symptoms

Spondyloperipheral dysplasia - short ulna

Marshall syndrome

COL2A1

(UniProt - OMIM)

COL11A1

(UniProt - OMIM)


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

Citations in the biomedical literature:

Spondyloperipheral dysplasia - short ulna		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: - Average age onset: - 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: 1 OMIM reference - 1 MeSH reference: C535799		External references: 1 OMIM reference - 1 MeSH reference: C536025


COMMON SIGNS	- Autosomal dominant inheritance - Short stature / dwarfism / nanism

Spondyloperipheral dysplasia - short ulna		Marshall syndrome
	Very frequent - Abnormal vertebral size / shape - Cone epiphyses / epiphysis - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Short hand / brachydactyly Frequent - Epiphyseal vertebral anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Pectus carinatum		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 - 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 - 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