Abstract
Congenital adducted thumb has been called variously as congenital clasped thumb, thumb in palm deformity or flexion adduction deformity of the thumb. This condition can be an isolated anomaly or associated with several genetic disorders. The syndromes that include adducted thumb as a cardinal feature such as Dundar Syndrome are few in the literature. This syndrome is an autosomal-recessive very rare disorder characterized by typical facial appearance with dysmorphic features that includes wasted build, hyperextensible, thin and translucent skin with atrophic scarring, severe congenital contractures of fingers and thumbs, club feet, severe kyphoscoliosis, joint instability, muscular hypotonia, and ocular involvement. Heart, kidney, and/or intestinal defects can also be observed. Up to date the syndrome is described in few families in the literature. Here we discuss the syndromes that include adducted thumb as a cardinal feature and also the differential diagnosis of the Dundar Syndrome according to the literature.
MeSH terms
-
Arthrogryposis* / genetics
-
Arthrogryposis* / pathology
-
Arthrogryposis* / physiopathology
-
Craniofacial Abnormalities* / genetics
-
Craniofacial Abnormalities* / pathology
-
Craniofacial Abnormalities* / physiopathology
-
Diagnosis, Differential
-
Ehlers-Danlos Syndrome* / genetics
-
Ehlers-Danlos Syndrome* / pathology
-
Ehlers-Danlos Syndrome* / physiopathology
-
Eye Abnormalities
-
Facies*
-
Genetic Diseases, X-Linked* / genetics
-
Genetic Diseases, X-Linked* / pathology
-
Genetic Diseases, X-Linked* / physiopathology
-
Humans
-
Intellectual Disability* / genetics
-
Intellectual Disability* / pathology
-
Intellectual Disability* / physiopathology
-
Joint Instability / congenital
-
Pterygium* / genetics
-
Pterygium* / pathology
-
Pterygium* / physiopathology
-
Skin Abnormalities
-
Spastic Paraplegia, Hereditary* / genetics
-
Spastic Paraplegia, Hereditary* / pathology
-
Spastic Paraplegia, Hereditary* / physiopathology
Supplementary concepts
-
Brittle cornea syndrome 1
-
Haspeslagh Fryns Muelenaere syndrome
-
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome