Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0015286
congenital disorder of glycosylation
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019942
distal arthrogryposis
is_a
MONDO:0020066
Ehlers-Danlos syndrome
is_a
MONDO:0100547
cardiogenetic disease
is_a
ATCS
exact
CHST14-related EDS
exact
CHST14-related Ehlers-Danlos syndrome
exact
D4ST1-deficient EDS
exact
D4ST1-deficient Ehlers-Danlos syndrome
exact
Dundar syndrome
related
EDS, Kosho type
exact
EDS, arthrogryposic type
exact
EDS, musculocontractural type
exact
EDS6B, formerly
related
EDSMC
related
EDSMC1
related
Ehlers-Danlos syndrome, Kosho type
exact
Ehlers-Danlos syndrome, arthrogryposic type
exact
Ehlers-Danlos syndrome, musculocontractural type 1
related
Ehlers-Danlos syndrome, musculocontractural type, 1
related
Ehlers-Danlos syndrome, type VIB, formerly
related
MCEDS
exact
adducted thumb clubfoot syndrome
related
adducted thumb, clubfoot, and progressive joint and skin laxity syndrome
related
adducted thumb-club foot syndrome
related
adducted thumb-clubfoot syndrome
exact
adducted thumbs Dundar type
related
adducted thumbs-arthrogryposis syndrome, Dundar type
exact
arthrogryposis, distal, with peculiar facies and hydronephrosis
related
autosomal recessive adducted thumb-club foot syndrome
related
musculocontractural EDS
related
musculocontractural Ehlers-Danlos syndrome
exact