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Marshall syndrome
1 OMIM reference -
1 associated gene
23 connected diseases
41 signs/symptoms
Disease Type of connection
Autosomal recessive Stickler syndrome
Fibrochondrogenesis
Stickler syndrome type 2
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Familial avascular necrosis of femoral head
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Synonym(s):
(no synonyms)
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 -
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: C536025
Gene symbol UniProt reference OMIM reference
COL11A1 P12107120280
Very frequent
- Anomalies of teeth and dentition
- Anteverted nares / nostrils
- Articular / joint pain / arthralgia
- Autosomal dominant inheritance
- 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
- 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