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1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Neonatal Marfan syndrome
Glaucoma - ectopia - microspherophakia - stiff joints - short stature

FBN1 FBN1


COMMON
GENES
FBN1



Citations in the biomedical literature:


Neonatal Marfan syndrome
FBN1
Glaucoma - ectopia - microspherophakia - stiff joints - short stature



Neonatal Marfan syndrome
Glaucoma - ectopia - microspherophakia - stiff joints - short stature

Synonym(s):
- Neonatal MFS

Synonym(s):
- Gemss syndrome

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
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: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

Glaucoma - ectopia - microspherophakia - stiff joints - short stature

Very frequent
- Autosomal dominant inheritance
- Glaucoma
- Lens dislocation / luxation / subluxation / ectopia lentis
- Short stature / dwarfism / nanism



Neonatal Marfan syndrome

(no data available)