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Congenital fascial dystrophy

MedGen UID:
226997
Concept ID:
C1302740
Congenital Abnormality
Synonym: Fascial Dystrophy, Congenital
 
Monarch Initiative: MONDO:0009219
OMIM®: 228020

Clinical features

From HPO
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Lower-limb joint contracture
MedGen UID:
395285
Concept ID:
C1859523
Anatomical Abnormality
A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.
Abnormal thorax morphology
MedGen UID:
867424
Concept ID:
C4021797
Anatomical Abnormality
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
Abnormality of the respiratory system
MedGen UID:
866322
Concept ID:
C4018871
Anatomical Abnormality
An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.

Recent clinical studies

Etiology

Cerejeira D, Bonito F, António AM, Cunha H
Australas J Dermatol 2021 Aug;62(3):380-382. Epub 2021 Mar 26 doi: 10.1111/ajd.13589. PMID: 33769553
Myers KL, Mir A, Schaffer JV, Meehan SA, Orlow SJ, Brinster NK
J Am Acad Dermatol 2016 Jul;75(1):163-8. Epub 2016 Mar 2 doi: 10.1016/j.jaad.2016.01.038. PMID: 26944597

Diagnosis

Baréa P, Hoffmann Guarda N, Bonamigo RR, Heck R
Pediatr Dermatol 2021 May;38(3):683-685. doi: 10.1111/pde.14545. PMID: 34224625
Cerejeira D, Bonito F, António AM, Cunha H
Australas J Dermatol 2021 Aug;62(3):380-382. Epub 2021 Mar 26 doi: 10.1111/ajd.13589. PMID: 33769553
Myers KL, Mir A, Schaffer JV, Meehan SA, Orlow SJ, Brinster NK
J Am Acad Dermatol 2016 Jul;75(1):163-8. Epub 2016 Mar 2 doi: 10.1016/j.jaad.2016.01.038. PMID: 26944597
Jablonska S, Blaszczyk M
Pediatr Dermatol 2004 Jul-Aug;21(4):508-10. doi: 10.1111/j.0736-8046.2004.21422.x. PMID: 15283804
Helm TN, Wirth PB, Helm KF
Cutis 1997 Sep;60(3):153-4. PMID: 9314621

Prognosis

Jablonska S, Blaszczyk M
Pediatr Dermatol 2000 Mar-Apr;17(2):105-10. doi: 10.1046/j.1525-1470.2000.01724.x. PMID: 10792797

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