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Connective tissue disorder

MedGen UID:: 1098
•Concept ID:: C0009782
•: Disease or Syndrome

Synonym:	Connective tissue disease
SNOMED CT:	Connective tissue disease (105969002); Disorder of connective tissue (105969002)

Monarch Initiative:	MONDO:0003900

Definition

A non-neoplastic or neoplastic disorder that affects the connective tissue. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Connective tissue disorder

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Connective and Soft Tissue Disorder
        Connective tissue disorder
        Anetoderma
        Bone Neoplasm
        Adamantinoma
        Tibial adamantinoma
        Bone benign neoplasm
        Aneurysmal bone cyst
        Benign neoplasm of lower jaw bone
        Benign Notochordal Cell Tumor
        Benign Osteoclastic Giant Cell-Rich Tumor of Bone
        Bone Hemangioma
        Bone Lipoma
        Bone Schwannoma
        Chondroblastoma
        Chondromyxoid fibroma
        Enchondroma
        Enchondromatosis
        Fibrous dysplasia
        Fibrous Histiocytoma of Bone
        Non-Ossifying Fibroma
        Osteoblastoma
        Osteochondroma
        Osteochondromyxoma
        Osteoid osteoma
        Osteoma
        Periosteal chondroma
        Periosteal Fibroma
        Bone cancer
        Bone Cancer by AJCC v7 Stage
        Bone Cancer by AJCC v8 Stage
        Bone Epithelioid Hemangioendothelioma
        Bone sarcoma
        Chest wall bone cancer
        Chordoma
        Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone
        Malignant Osteoclastic Giant Cell-Rich Tumor of Bone
        Mandibular cancer
        Metastatic malignant neoplasm to bone
        Primary bone lymphoma
        Recurrent Malignant Bone Neoplasm
        Refractory Malignant Bone Neoplasm
        Solitary osseous plasmacytoma
        Bone Erdheim-Chester Disease
        Bone Glomus Tumor
        Bone Langerhans Cell Histiocytosis
        Intermediate Bone Neoplasm
        Aggressive Osteoblastoma
        Fibrocartilaginous Mesenchymoma
        Intermediate Osteoclastic Giant Cell-Rich Tumor of Bone
        Metastasizing Chondroblastoma
        Maxillofacial Neoplasm
        Benign Maxillofacial Neoplasm
        Maxillofacial Sarcoma
        Neoplasm of femur
        Notochordal tumor
        Osteoclastic Giant Cell-Rich Tumor of Bone
        Skull neoplasm
        Benign Skull Neoplasm
        Jaw neoplasm
        Neoplasm of the nose
        Orbit neoplasm
        Skull base neoplasm
        Skull cancer
        Spinal Neoplasm
        Cervical Spine Neoplasm
        Intraspinal Neoplasm
        Lumbar Spine Neoplasm
        Lumbosacral Spine Neoplasm
        Sacral Spine Neoplasm
        Spinal chordoma
        Thoracic Spine Neoplasm
        Vascular bone neoplasm
        Bone angiosarcoma
        Bone Tumor of Undefined Neoplastic Nature
        Bone cyst
        Cystic angiomatosis of bone
        Multiple bony cystic lesions
        Unicameral bone cyst
        Chest Wall Chondromesenchymal Hamartoma
        Cartilage disorder
        Chondromalacia of patella
        Congenital laryngomalacia
        Osteochondritis
        Osteochondritis dissecans
        Pectus carinatum
        Superior pectus carinatum
        Relapsing polychondritis
        Tietze syndrome
        Tracheobronchomalacia
        Bronchomalacia
        Cartilaginous tracheobronchomalacia
        Excessive dynamic airway collapse
        Tracheomalacia
        Cellulitis
        Cellulitis of hand
        Cellulitis of pharynx
        Ludwig angina
        Orbital cellulitis
        Preseptal cellulitis
        Connective tissue neoplasm
        Chondroma
        Chondromatosis
        Laryngeal Chondroma
        Maxillofacial Chondroma
        Soft tissue chondroma
        Chondrosarcoma
        Atypical Cartilaginous Tumor/Chondrosarcoma, Grade 1
        Chondrosarcoma, Grade 2
        Chondrosarcoma, Grade 3
        Clear cell chondrosarcoma
        Dedifferentiated chondrosarcoma
        Laryngeal Chondrosarcoma
        Localized chondrosarcoma
        Maxillofacial Chondrosarcoma
        Mesenchymal chondrosarcoma
        Metastatic Chondrosarcoma
        Periosteal chondrosarcoma
        Primary Central Chondrosarcoma
        Recurrent Chondrosarcoma
        Secondary Chondrosarcoma
        Synovial Chondrosarcoma
        Clear cell sarcoma
        Adult Clear Cell Sarcoma of Soft Tissue
        Childhood Clear Cell Sarcoma of Soft Tissue
        Metastatic Clear Cell Sarcoma of Soft Tissue
        Recurrent Clear Cell Sarcoma of Soft Tissue
        Refractory Clear Cell Sarcoma of Soft Tissue
        Endometrial stromal tumor
        Endometrial stromal sarcoma
        Fibroblastic neoplasm
        Benign Fibroblastic Neoplasm
        Fibroepithelial neoplasm
        Fibroma
        Fibromatosis
        Fibrosarcoma
        Histiocytoma
        Infantile digital fibromatosis
        Intermediate Fibroblastic Neoplasm
        Myofibromatosis
        Skin Fibroblastic Neoplasm
        Solitary fibrous tumor
        Gastrointestinal stromal tumor
        Benign Gastrointestinal Stromal Tumor
        Childhood Gastrointestinal Stromal Tumor
        Epithelioid Cell Type Gastrointestinal Stromal Tumor
        Extragastrointestinal Gastrointestinal Stromal Tumor
        Gastrointestinal Stromal Tumor of the Gastrointestinal Tract
        Gastrointestinal Stromal Tumor of Uncertain Malignant Potential
        Malignant Gastrointestinal Stromal Tumor
        Mixed Cell Type Gastrointestinal Stromal Tumor
        Recurrent Gastrointestinal Stromal Tumor
        Spindle Cell Type Gastrointestinal Stromal Tumor
        Giant cell tumor
        Giant cell tumor of bone
        Giant cell tumor of soft tissue
        Malignant giant cell tumor
        Tenosynovial giant cell tumor
        Mastocytosis
        Benign mastocytoma
        Cutaneous mastocytosis
        Extracutaneous mastocytoma
        Hepatic mastocytosis
        Mast cell sarcoma
        Systemic mast cell disease
        Myopericytoma
        Myxoma
        Cardiac Myxoma
        Carney complex
        Conjunctival Myxoma
        Cutaneous myxoma
        Intramuscular Myxoma
        Juxta-Articular Myxoma
        Neurothekeoma
        Ovarian Myxoma
        Myxosarcoma
        Neoplasms, Bone Tissue
        Ossifying fibroma
        Osteosarcoma
        Small cell sarcoma
        Desmoplastic small round cell tumor
        EWSR1-negative small round cell tumor
        Round cell sarcoma with EWSR1-non-ETS fusion
        Sarcoma with BCOR genetic alterations
        Small cell osteogenic sarcoma
        Uterine Corpus Central Primitive Neuroectodermal Tumor
        Synovial sarcoma
        Adult Synovial Sarcoma
        Biphasic synovial sarcoma
        Cardiac Synovial Sarcoma
        Childhood Synovial Sarcoma
        Esophageal Synovial Sarcoma
        Gastric Synovial Sarcoma
        Kidney Synovial Sarcoma
        Liver Synovial Sarcoma
        Localized Synovial Sarcoma
        Lung Synovial Sarcoma
        Mediastinum synovial sarcoma
        Metastatic Synovial Sarcoma
        Monophasic synovial sarcoma
        Pericardial Synovial Sarcoma
        Pleural Synovial Sarcoma
        Prostate Synovial Sarcoma
        Recurrent Synovial Sarcoma
        Refractory Synovial Sarcoma
        Sinonasal Synovial Sarcoma
        Unresectable Synovial Sarcoma
        Contracture of palmar fascia
        Cutaneous lupus erythematosus
        Chronic discoid lupus erythematosus
        Lupus erythematosus panniculitis
        Drug Induced Cutaneous Lupus Erythematosus
        Lupus erythematosus tumidus
        Rash of systemic lupus erythematosus
        Subacute cutaneous lupus erythematosus
        Cutaneous mucinosis
        Alopecia mucinosa
        Ganglion cyst
        Mucopolysaccharidosis
        Deficiency of hyaluronoglucosaminidase
        Morquio syndrome
        Mucopolysaccharidosis type 1
        Mucopolysaccharidosis type 6
        Mucopolysaccharidosis type 7
        Mucopolysaccharidosis, MPS-II
        Sanfilippo syndrome
        Myxedema
        Scleredema
        Scleromyxedema
        Cutis laxa
        Arterial tortuosity syndrome
        Autosomal recessive cutis laxa type 1
        Craniofaciofrontodigital syndrome
        Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
        Cutis laxa, autosomal dominant
        Cutis laxa, autosomal dominant 1
        Cutis laxa, autosomal dominant 2
        Cutis laxa, autosomal dominant 3
        Cutis laxa, X-linked
        de Barsy syndrome
        ALDH18A1-related de Barsy syndrome
        PYCR1-related de Barsy syndrome
        Geroderma osteodysplastica
        Lethal arteriopathy syndrome due to fibulin-4 deficiency
        Redundant skin
        Redundant skin in infancy
        Redundant skin on fingers
        RIN2 syndrome
        SCARF syndrome
        Dermatomyositis
        Adult dermatomyositis
        Childhood type dermatomyositis
        Juvenile Dermatomyositis Sine Myositis
        Hereditary disorder of connective tissue
        COL1A1 Associated Connective Tissue Disorder
        Ehlers-Danlos syndrome
        Osteogenesis imperfecta
        Marfan syndrome
        Loeys-Dietz Syndrome Type 2
        Multiple congenital exostosis
        Exostoses, multiple, type 2
        Exostoses, multiple, type III
        Multiple digital exostoses
        Multiple long-bone exostoses
        Homocystinuria
        Arakawa syndrome 2
        Hyperhomocysteinemia
        Methylcobalamin deficiency type cblE
        Induratio penis plastica
        Lipedema
        Localized scleroderma
        Circumscribed Morphea
        Deep Circumscribed Morphea
        Plaque morphea
        Disabling pansclerotic morphea of childhood
        Generalized morphea
        Linear scleroderma
        Coup de sabre scleroderma
        Mixed Morphea
        Pansclerotic Morphea
        Mixed connective tissue disease
        Non-Neoplastic Bone Disorder
        Achondroplasia
        Thanatophoric dysplasia
        Acroosteolysis
        Hajdu-Cheney syndrome
        Osteolytic defect of thumb phalanx
        Osteolytic defects of the phalanges of the 2nd finger
        Osteolytic defects of the phalanges of the 3rd finger
        Osteolytic defects of the phalanges of the 4th finger
        Osteolytic defects of the phalanges of the 5th finger
        Bone development disease
        Congenital pectus excavatum
        Disappearing bone disease
        Dysostosis
        Gigantism
        Gorlin syndrome
        Lower limb asymmetry
        Odontoid hypoplasia
        Osteochondrodysplasia
        Platybasia
        Proteus syndrome
        Severe short stature
        Bone Infarction
        Bone necrosis
        Aseptic necrosis of bone
        Avascular necrosis
        Bisphosphonate-Associated Osteonecrosis
        Femur Head Necrosis
        Idiopathic phalangeal acro-osteolysis
        Legg-Calve-Perthes disease
        Mueller-weiss syndrome
        Osteonecrosis of jaw due to bisphosphonate
        Osteonecrosis of the jaw
        Osteoradionecrosis
        Osteoradionecrosis of the mandible
        Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
        Bone Rosai-Dorfman Disease
        Cartilage development disorder
        Congenital deformity of hip joint
        Congenital pseudoarthrosis of the tibia
        Deformity of spine
        Hyperlordosis
        Kyphosis
        Scoliosis
        Enthesitis
        Exostoses
        Exostoses of hand bones
        Exostoses of the forearm bones
        Exostosis of external ear canal
        Heberden node
        Heel spur
        Osteophyte of bone
        Pelvic bone exostoses
        Rib exostoses
        Scapular exostoses
        Hyperostosis
        Cranial hyperostosis
        Craniodiaphyseal dysplasia
        Craniotubular Hyperostosis
        Diffuse idiopathic skeletal hyperostosis
        Hyperostosis interna frontalis
        Hyperostosis, Sternocostoclavicular
        Hyperphosphatasemia tarda
        Increased skull ossification
        Infantile cortical hyperostosis
        Vertebral hyperostosis
        Infection of bone
        Infectious disorder of joint
        Osteomyelitis
        Metabolic bone disorder
        Bone Demineralization, Pathologic
        Bone Paget disease
        Mucolipidosis
        Osteomalacia
        Osteoporosis
        Pseudogout
        Pseudohypoparathyroidism
        Rickets
        Osteitis fibrosa
        Osteochondrosis
        Familial osteoarthropathy of the fingers
        Freiberg disease
        Juvenile osteochondritis
        Juvenile osteochondrosis of spine
        Medial condensing osteitis of the clavicle
        Morbus Kienboeck
        Morbus Osgood-Schlatter
        Osteochondritis of tarsal/metatarsal bone
        Osteochondrosis of Spine
        Panner disease
        Sinding-Larsen-Johansson disease
        Osteopetrosis
        12q14 microdeletion syndrome
        Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
        Autosomal dominant osteopetrosis
        Autosomal dominant osteopetrosis 1
        Autosomal dominant osteopetrosis 2
        Autosomal recessive osteopetrosis
        Autosomal recessive osteopetrosis 6
        Autosomal recessive osteopetrosis 7
        Axial osteosclerosis
        Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
        Dermatofibrosis lenticularis disseminata
        Dysosteosclerosis
        Early-onset calcifying leukoencephalopathy-skeletal dysplasia
        Infantile osteopetrosis with neuroaxonal dysplasia
        Isolated osteopoikilosis
        Leukocyte adhesion deficiency 3
        Melorheostosis
        Melorheostosis with osteopoikilosis
        Osteoclast-Rich Osteopetrosis
        Osteopathia striata with cranial sclerosis
        Osteopetrosis with renal tubular acidosis
        Osteosclerotic metaphyseal dysplasia
        Pyknodysostosis
        Osteopoikilosis
        Spinal Degenerative Disorder
        Intervertebral disk degeneration
        Spinal arthritis deformans
        Spondylolisthesis
        Spondylolisthesis at L5-S1
        Spondylolysis
        Congenital Spondylolysis
        Tibia vara
        Noonan syndrome
        Noonan syndrome 1
        Noonan syndrome 2
        Noonan syndrome 3
        Noonan syndrome 4
        Noonan syndrome 5
        Noonan syndrome 6
        Noonan syndrome 7
        Noonan syndrome 8
        Noonan syndrome 9
        Noonan syndrome 10
        Noonan syndrome 11
        Noonan syndrome 12
        Noonan syndrome 13
        Panniculitis
        Erythema induratum
        Nodular non-suppurative panniculitis
        Peritoneal Panniculitis
        Plantar fibromatosis
        Pseudoxanthoma elasticum
        Acquired pseudoxanthoma elasticum
        Inherited pseudoxanthoma elasticum
        Autosomal recessive inherited pseudoxanthoma elasticum
        Pseudoxanthoma elasticum, forme fruste
        Rheumatic disorder
        Ankylosing spondylitis
        Epidermolysis bullosa dystrophica
        Epidermolysis bullosa pruriginosa
        Generalized dominant dystrophic epidermolysis bullosa
        Localized dystrophic epidermolysis bullosa
        Recessive dystrophic epidermolysis bullosa
        Recessive dystrophic epidermolysis bullosa inversa
        Recessive dystrophic epidermolysis bullosa-generalized other
        Transient bullous dermolysis of the newborn
        Hereditary nephritis
        Keloid
        Acne keloid
        Lupus erythematosus
        Central nervous system lupus
        Drug-induced lupus erythematosus
        Lupus Flare
        Neonatal lupus erythematosus
        Systemic lupus erythematosus
        Necrobiosis
        Granuloma annulare
        Necrobiosis lipoidica
        Necrobiotic xanthogranuloma
        Polymyalgia rheumatica
        Polymyositis
        Juvenile polymyositis
        Rheumatoid arthritis
        Adult-onset Still disease
        Caplan syndrome
        Early Rheumatoid Arthritis
        Felty syndrome
        Juvenile onset Still disease
        Juvenile rheumatoid arthritis
        Rheumatoid nodulosis
        Rheumatoid vasculitis
        Seropositive rheumatoid arthritis
        Sjogren syndrome
        Scleroderma
        Proximal scleroderma
        Scleroderma Renal Crisis
        Systemic sclerosis
        Rheumatism
        Fibromyalgia
        Juvenile Primary Fibromyalgia Syndrome
        Gout
        Gouty arthropathy
        Podagra
        Juvenile idiopathic arthritis
        Enthesitis-related juvenile idiopathic arthritis
        Oligoarticular juvenile idiopathic arthritis
        Psoriasis-related juvenile idiopathic arthritis
        Psoriatic Juvenile Idiopathic Arthritis
        Rheumatoid factor-negative juvenile idiopathic arthritis
        Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
        Systemic onset juvenile chronic arthritis
        Systemic-onset juvenile idiopathic arthritis
        Undifferentiated Juvenile Idiopathic Arthritis
        Unspecified juvenile idiopathic arthritis
        Osteoarthritis
        Osteoarthritis, hip
        Osteoarthritis, knee
        Osteoarthritis, spine
        Premature osteoarthritis
        Rheumatic Fever
        Rheumatic heart disease
        Rheumatic nodule
        Wissler syndrome
        Undifferentiated connective tissue syndrome
        Weill-Marchesani syndrome
        Weill-Marchesani 4 syndrome, recessive
        Weill-Marchesani syndrome 1
        Weill-Marchesani syndrome 3
        Weill-Marchesani syndrome 2, dominant

Professional guidelines

PubMed

Expert consensus on the management of systemic sclerosis-associated interstitial lung disease.

Rahaghi FF, Hsu VM, Kaner RJ, Mayes MD, Rosas IO, Saggar R, Steen VD, Strek ME, Bernstein EJ, Bhatt N, Castelino FV, Chung L, Domsic RT, Flaherty KR, Gupta N, Kahaleh B, Martinez FJ, Morrow LE, Moua T, Patel N, Shlobin OA, Southern BD, Volkmann ER, Khanna D
Respir Res 2023 Jan 9;24(1):6. doi: 10.1186/s12931-022-02292-3. PMID: 36624431 Free PMC Article

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.

Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765 Free PMC Article

Loeys-Dietz syndrome: a primer for diagnosis and management.

MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd
Genet Med 2014 Aug;16(8):576-87. Epub 2014 Feb 27 doi: 10.1038/gim.2014.11. PMID: 24577266 Free PMC Article

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Recent clinical studies

Etiology

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.

Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765 Free PMC Article

One year in review 2019: systemic lupus erythematosus.

Zucchi D, Elefante E, Calabresi E, Signorini V, Bortoluzzi A, Tani C
Clin Exp Rheumatol 2019 Sep-Oct;37(5):715-722. Epub 2019 Jul 19 PMID: 31376267

Fever in Children and Fever of Unknown Origin.

Dayal R, Agarwal D
Indian J Pediatr 2016 Jan;83(1):38-43. Epub 2015 Mar 1 doi: 10.1007/s12098-015-1724-4. PMID: 25724501

Idiopathic inflammatory myopathies.

van der Kooi AJ, de Visser M
Handb Clin Neurol 2014;119:495-512. doi: 10.1016/B978-0-7020-4086-3.00032-1. PMID: 24365315

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

See all (649)

Diagnosis

Clinical features and complications of Loeys-Dietz syndrome: A systematic review.

Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564

Pathophysiology and Pathogenesis of Marfan Syndrome.

Zeigler SM, Sloan B, Jones JA
Adv Exp Med Biol 2021;1348:185-206. doi: 10.1007/978-3-030-80614-9_8. PMID: 34807420 Free PMC Article

Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):48-69. Epub 2017 Feb 1 doi: 10.1002/ajmg.c.31538. PMID: 28145611

Fever in Children and Fever of Unknown Origin.

Dayal R, Agarwal D
Indian J Pediatr 2016 Jan;83(1):38-43. Epub 2015 Mar 1 doi: 10.1007/s12098-015-1724-4. PMID: 25724501

Marfan's syndrome: an overview.

Yuan SM, Jing H
Sao Paulo Med J 2010 Dec;128(6):360-6. doi: 10.1590/s1516-31802010000600009. PMID: 21308160 Free PMC Article

See all (873)

Therapy

Expert consensus on the management of systemic sclerosis-associated interstitial lung disease.

Spontaneous Coronary Artery Dissection: Clinical Outcomes and Risk of Recurrence.

Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364

Colony-stimulating factor 1 receptor (CSF1R) inhibitors in cancer therapy.

Cannarile MA, Weisser M, Jacob W, Jegg AM, Ries CH, Rüttinger D
J Immunother Cancer 2017 Jul 18;5(1):53. doi: 10.1186/s40425-017-0257-y. PMID: 28716061 Free PMC Article

Systemic lupus erythematosus.

D'Cruz DP, Khamashta MA, Hughes GR
Lancet 2007 Feb 17;369(9561):587-96. doi: 10.1016/S0140-6736(07)60279-7. PMID: 17307106

Eosinophilic fasciitis.

Sibrack LA, Mazur EM, Hoffman R, Bollet AJ
Clin Rheum Dis 1982 Aug;8(2):443-54. PMID: 6754236

See all (259)

Prognosis

One year in review 2019: systemic lupus erythematosus.

Zucchi D, Elefante E, Calabresi E, Signorini V, Bortoluzzi A, Tani C
Clin Exp Rheumatol 2019 Sep-Oct;37(5):715-722. Epub 2019 Jul 19 PMID: 31376267

Spontaneous Coronary Artery Dissection: Clinical Outcomes and Risk of Recurrence.

Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364

Connective Tissue Disorder-Associated Vasculitis.

Sharma A, Dhooria A, Aggarwal A, Rathi M, Chandran V
Curr Rheumatol Rep 2016 Jun;18(6):31. doi: 10.1007/s11926-016-0584-x. PMID: 27097818

Idiopathic inflammatory myopathies.

van der Kooi AJ, de Visser M
Handb Clin Neurol 2014;119:495-512. doi: 10.1016/B978-0-7020-4086-3.00032-1. PMID: 24365315

Fetal echocardiography.

Srinivasan S
Indian J Pediatr 2000 Mar;67(3 Suppl):S20-5. PMID: 11129916

See all (364)

Clinical prediction guides

Expert consensus on the management of systemic sclerosis-associated interstitial lung disease.

Clinical features and complications of Loeys-Dietz syndrome: A systematic review.

Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564

Meester-Loeys Syndrome.

Meester JAN, De Kinderen P, Verstraeten A, Loeys B
Adv Exp Med Biol 2021;1348:265-272. doi: 10.1007/978-3-030-80614-9_12. PMID: 34807424

Spontaneous Coronary Artery Dissection: Clinical Outcomes and Risk of Recurrence.

Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

See all (402)

Recent systematic reviews

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.

Rapoport M, Bober MB, Raggio C, Wekre LL, Rauch F, Westerheim I, Hart T, van Welzenis T, Mistry A, Clancy J, Booth L, Prince S, Semler O
Orphanet J Rare Dis 2023 Feb 22;18(1):34. doi: 10.1186/s13023-023-02627-3. PMID: 36814274 Free PMC Article

Bone Fragility in Hereditary Connective Tissue Disorders: A Systematic Review and Meta-Analysis.

Charoenngam N, Rittiphairoj T, Ponvilawan B, Jaroenlapnopparat A, Waitayangkoon P, Suppakitjanusant P, Prasitsumrit V, Pongchaiyakul C, Holick MF
Endocr Pract 2023 Jul;29(7):589-600. Epub 2023 Feb 17 doi: 10.1016/j.eprac.2023.02.003. PMID: 36804968

Clinical features and complications of Loeys-Dietz syndrome: A systematic review.

Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564

Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review.

El Masri H, Loong TH, Meurette G, Podevin J, Zinzindohoue F, Lehur PA
Tech Coloproctol 2018 May;22(5):333-341. Epub 2018 Apr 26 doi: 10.1007/s10151-018-1783-4. PMID: 29700641

Treatment of vascular Ehlers-Danlos syndrome: a systematic review.

Bergqvist D, Björck M, Wanhainen A
Ann Surg 2013 Aug;258(2):257-61. doi: 10.1097/SLA.0b013e31829c7a59. PMID: 23751452

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Connective tissue disorder

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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