Orphanet: Osteogenesis imperfecta type 4

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Osteogenesis imperfecta type 4

Disease definition

A moderately severe form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests from infancy as susceptibility to bone fractures, short stature, mild to moderate scoliosis in most, gray-blue or white sclera, and dentinogenesis imperfecta.

ORPHA:216820

Classification level: Subtype of disorder

Synonym(s):
- OI type 4
Prevalence: Unknown
Inheritance: Autosomal dominant or Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q78.0
ICD-11: LD24.K0
OMIM: 166220 259440 610682 610968 613849 613982 615066 615220 616507
UMLS: C0268363
MeSH: C000631847
GARD: 8696
MedDRA: -

A summary on this disease is available in Deutsch (2010) Italiano (2010) Français (2021) Nederlands (2021) Polski (2010, pdf)

Detailed information

General public

Article for general public
English (2011) - Socialstyrelsen
Deutsch (2015, pdf) - ACHSE
Svenska (2017) - Socialstyrelsen

Guidelines

Emergency guidelines
English (2008, pdf) - Orphanet Urgences
Español (2008, pdf) - Orphanet Urgences
Italiano (2008, pdf) - Orphanet Urgences
Português (2008, pdf) - Orphanet Urgences
Français (2018, pdf) - Orphanet Urgences

Clinical practice guidelines
Français (2017) - PNDS
Español (2020, pdf) - Asoc Española de Pediatría

Anesthesia guidelines
Czech (2019) - Orphananesthesia
Deutsch (2019) - Orphananesthesia
English (2019) - Orphananesthesia

Disease review articles

Clinical genetics review
English (2021) - GeneReviews

Genetic Testing

Guidance for genetic testing
English (2012) - Eur J Hum Genet

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

Newborn screening

Newborn screening library

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.