Disease - Ehlers-Danlos syndrome, musculocontractural type 1
Definition
A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement.
Acronym
EDSMC1
Synonyms
Adducted thumb-clubfoot syndrome
Adducted thumbs-arthrogryposis Dundar type
Arthrogryposis distal with peculiar facies and hydronephrosis
ATCS
Dundar syndrome
EDS6B formerly
EDSMC
Ehlers-Danlos syndrome type VIB formerly
Adducted thumbs-arthrogryposis Dundar type
Arthrogryposis distal with peculiar facies and hydronephrosis
ATCS
Dundar syndrome
EDS6B formerly
EDSMC
Ehlers-Danlos syndrome type VIB formerly
Keywords
Disclaimer
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