Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1(OIEDS1)

MedGen UID:: 1763836
•Concept ID:: C5436842
•: Disease or Syndrome

Synonym:	OIEDS SYNDROME 1

Gene (location): Gene(s) directly associated with this condition or phenotype.	COL1A1 (17q21.33)

Monarch Initiative:	MONDO:0030854
OMIM®:	619115

Definition

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-1 (OIEDS1) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by Cabral et al., 2007; Malfait et al., 2013). Genetic Heterogeneity of Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome Also see OIEDS2 (619120), caused by mutation in the COL1A2 gene (120160) on chromosome 7q21. [from OMIM]

Clinical features

From HPO

Atrial septal defect

MedGen UID:: 6753
•Concept ID:: C0018817
•: Congenital Abnormality

Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.

See: Feature record | Search on this feature

Arterial rupture

MedGen UID:: 102341
•Concept ID:: C0155760
•: Disease or Syndrome

Sudden breakage of an artery leading to leakage of blood from the circulation.

See: Feature record | Search on this feature

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

See: Feature record | Search on this feature

Recurrent fractures

MedGen UID:: 42094
•Concept ID:: C0016655
•: Injury or Poisoning

The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).

See: Search on this feature

Inguinal hernia

MedGen UID:: 6817
•Concept ID:: C0019294
•: Finding

Protrusion of the contents of the abdominal cavity through the inguinal canal.

See: Feature record | Search on this feature

Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

See: Feature record | Search on this feature

Recurrent joint dislocation

MedGen UID:: 102356
•Concept ID:: C0158100
•: Injury or Poisoning

Dislocation of a given joint repeated times.

See: Search on this feature

Joint hypermobility

MedGen UID:: 336793
•Concept ID:: C1844820
•: Finding

The ability of a joint to move beyond its normal range of motion.

See: Feature record | Search on this feature

Generalized hypotonia

MedGen UID:: 346841
•Concept ID:: C1858120
•: Finding

Generalized muscular hypotonia (abnormally low muscle tone).

See: Feature record | Search on this feature

Reduced bone mineral density

MedGen UID:: 393152
•Concept ID:: C2674432
•: Finding

A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.

See: Feature record | Search on this feature

Hyperextensible skin

MedGen UID:: 66023
•Concept ID:: C0241074
•: Finding

A condition in which the skin can be stretched beyond normal, and then returns to its initial position.

See: Feature record | Search on this feature

Bruising susceptibility

MedGen UID:: 140849
•Concept ID:: C0423798
•: Finding

An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

See: Feature record | Search on this feature

Dermal translucency

MedGen UID:: 373141
•Concept ID:: C1836646
•: Finding

An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.

See: Feature record | Search on this feature

Poor wound healing

MedGen UID:: 377525
•Concept ID:: C1851789
•: Finding

A reduced ability to heal cutaneous wounds.

See: Feature record | Search on this feature

Blue sclerae

MedGen UID:: 154236
•Concept ID:: C0542514
•: Finding

An abnormal bluish coloration of the sclera.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of the cardiovascular system
- Arterial rupture
- Atrial septal defect
Abnormality of the eye
- Blue sclerae
Abnormality of the integument
Abnormality of the musculoskeletal system
Growth abnormality
- Short stature

Professional guidelines

PubMed

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090

See all (1)

Recent clinical studies

Etiology

Osteogenesis imperfecta/ Ehlers-Danlos overlap syndrome (COL1-related disorder) and pregnancy.

Šinská Alexandra, Hostinská Eliška, Pilka Radovan
Ceska Gynekol 2022;87(6):396-400. doi: 10.48095/cccg2022396. PMID: 36543586

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Madhuri V, Selina A, Loganathan L, Kumar A, Kumar V, Raymond R, Ramesh S, Vincy N, Joel G, James D, Kandagaddala M, B A
Ann Hum Genet 2021 Jan;85(1):37-46. Epub 2020 Aug 7 doi: 10.1111/ahg.12403. PMID: 32770541

Familial occurrence and heritable connective tissue disorders in cervical artery dissection.

Debette S, Goeggel Simonetti B, Schilling S, Martin JJ, Kloss M, Sarikaya H, Hausser I, Engelter S, Metso TM, Pezzini A, Thijs V, Touzé E, Paolucci S, Costa P, Sessa M, Samson Y, Béjot Y, Altintas A, Metso AJ, Hervé D, Lichy C, Jung S, Fischer U, Lamy C, Grau A, Chabriat H, Caso V, Lyrer PA, Stapf C, Tatlisumak T, Brandt T, Tournier-Lasserve E, Germain DP, Frank M, Baumgartner RW, Grond-Ginsbach C, Bousser MG, Leys D, Dallongeville J, Bersano A, Arnold M; CADISP-plus consortium
Neurology 2014 Nov 25;83(22):2023-31. Epub 2014 Oct 29 doi: 10.1212/WNL.0000000000001027. PMID: 25355833 Free PMC Article

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS
Acta Paediatr 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. PMID: 12801113

See all (4)

Diagnosis

Osteogenesis imperfecta/ Ehlers-Danlos overlap syndrome (COL1-related disorder) and pregnancy.

Šinská Alexandra, Hostinská Eliška, Pilka Radovan
Ceska Gynekol 2022;87(6):396-400. doi: 10.48095/cccg2022396. PMID: 36543586

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS
Acta Paediatr 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. PMID: 12801113

Skin is a window on heritable disorders of connective tissue.

Holbrook KA, Byers PH
Am J Med Genet 1989 Sep;34(1):105-21. doi: 10.1002/ajmg.1320340118. PMID: 2683775

See all (8)

Clinical prediction guides

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC
Hum Mutat 2007 Apr;28(4):396-405. doi: 10.1002/humu.20456. PMID: 17206620

A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.

Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS
Acta Paediatr 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. PMID: 12801113

See all (3)

MedGen

National Center for Biotechnology Information

Send to:

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1(OIEDS1)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity