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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).
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.
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 .
Symptoms may also include scoliosis and primary amenorrhea. Synonyms include hypoplastic thumb Mullerian aplasia , and Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities .
Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly, cutaneous syndactyly and global hypoplasia of the hand or foot. [1] In many cases, bones will be missing from the fingers and some fingers or toes may be missing altogether.
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).
Cerebellar Hypoplasia Symptoms and Causes. VCA Hospitals reveal that cerebellar hypoplasia in cats is a neurological condition in which the cerebellum fails to fully develop. This part of the ...
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 ...