Genetic and Medical Glossary

reduced convexity of the occiput (posterior part of skull), giving the appearance of flattening of the back of the skull

increased convexity of the occiput (posterior part of the skull), giving the appearance of prominence at the back of the skull

association of Duane syndrome (eye retraction) with forearm malformation and deafness; autosomal dominant disorder due to mutation of gene located in chromosome region 20q13.13-q13.2

presence of fewer than five fingers or toes on a hand or foot

deficiency of amniotic fluid which compresses the fetus

a short molecule of DNA, generally fewer than 20 bases long and usually synthesized artificially; an important tool for numerous molecular biology procedures, including site-directed mutagenesis

birth defect in which an infant's intestine or other abdominal organs are outside of the body because of a hole in the navel

a putative protein coding DNA sequence, marked by a start codon at one end and a stop codon at the other end

distal 13q deletion characterized by retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital abnormalities, especially when band q32 is involved

Lateral (A/P) fusion of the digits (phalanges and/or metatarsals) by hard tissue (cartilage and/or bone)

process of bone formation

inherited condition characterized by bones that are mottled because of widespread small foci of compact bone in the spongy bone