Orthopedics > OCOSH Classification > Hand Disorders and Deformities > Congenital Hand Deformities > Failure of formation of parts > Cleft Hand > Split hand foot with long bone deficiency OMIM
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Split hand foot with long bone deficiency OMIM
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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119100
Description: %119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1
Alternative titles;
CLEFT HAND AND ABSENT TIBIA
APLASIA OF TIBIA WITH ECTRODACTYLY
TIBIAL APLASIA WITH SPLIT-HAND/SPLIT-FOOT DEFORMITY
ECTRODACTYLY WITH APLASIA OF LONG BONES
Roberts (1967) described a family in which persons in 4 generations had one cleft hand with a missing middle finger and flexed ring finger; one person also had grossly deformed legs with missing tibias requiring amputation and a sib had only the severe leg deformity. Another member had absent forearms with the leg deformity.
Type: Reference Material
Author/Contact: Victor A. McKusick
Institution: OMIM
Primary Subject/Category:
Submitted by: admin
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Added: Sat Aug 08 2009