Birth defectA birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders.
SyndromeA syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words syndrome, disease, and disorder end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses.
Sonic hedgehog proteinSonic hedgehog protein (SHH) is encoded for by the SHH gene. The protein is named after the character Sonic the Hedgehog. This signaling molecule is key in regulating embryonic morphogenesis in all animals. SHH controls organogenesis and the organization of the central nervous system, limbs, digits and many other parts of the body. Sonic hedgehog is a morphogen that patterns the developing embryo using a concentration gradient characterized by the French flag model.
DactylyIn biology, dactyly is the arrangement of digits (fingers and toes) on the hands, feet, or sometimes wings of a tetrapod animal. It comes from the Greek word δακτυλος () = "finger". Sometimes the ending "-dactylia" is used. The derived adjectives end with "-dactyl" or "-dactylous". Pentadactyly (from Greek πέντε "five") is the condition of having five digits on each limb. It is traditionally believed that all living tetrapods are descended from an ancestor with a pentadactyl limb, although many species have now lost or transformed some or all of their digits by the process of evolution.
Medical geneticsMedical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.