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Thumb hypoplasia is a spectrum of congenital abnormalities of the thumb varying from small defects to complete absence of the thumb. [1] It can be isolated, when only the thumb is affected, and in 60% of the cases [ 2 ] it is associated with radial dysplasia [ 1 ] (or radial club, radius dysplasia, longitudinal radial deficiency).
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Schmitt Gillenwater Kelly syndrome has an autosomal dominant pattern of inheritance . Schmitt Gillenwater Kelly syndrome is a rare autosomal dominant [ 1 ] congenital disorder consisting of radial hypoplasia , triphalangeal thumbs , hypospadias , and maxillary diastema .
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic limb malformation syndrome which is characterized by thumb triphalangy, polysyndactyly of the hand and foot, and hypoplasia/aplasia of the tibia bone.
Common physical symptoms show a short leg, the ankle and foot being short and deformed, absence of rays and bowing of the tibia. [4] Another physical symptom is the presence of contralateral oligosyndactyly of the hand. [1] Hecht Scott syndrome is also associated with psychosocial morbidity and mortality. [4]
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
Signs and symptoms [ edit ] The most common symptom is a duplication of a triphalangeal thumb in the hands, which would leave the person affected by the condition with two triphalangeal thumbs in each hand, alongside other digital and radiological anomalies, such as duplication of the big toe, hypoplastic duplicated radius bones, etc. [ 5 ]
Signs and symptoms [ edit ] The fusion of two or more metacarpal bones is the characteristic feature of this malformation, however this itself causes more symptoms, such as clinodactyly , shortening of the fused metacarpal bones , and reduced range of mobility of the fingers supported by the metacarpals.
Thumb aplasia- the absence of a thumb Syndactyly - condition in which two or more fingers (or toes) are joined together; the joining can involve the bones or just the skin between the fingers Clinodactyly - curving of the fifth finger (little finger) towards the fourth finger (ring finger) due to the underdevelopment of the middle bone in the ...