Arachnodactyly
Arachnodactyly Definition Arachnodactyly is a condition which causes the fingers of an individual to be long, slender and look like a spider’s legs. The name “Arachnodactyly” is originally derived …
Category: Genetics and Birth Defects
Patent ductus arteriosus
Patent Ductus Arteriosus Definition Patent ductus arteriosus (PDA) is a congenital heart disorder in which the ductus arteriosus of a neonate remains open or ‘patent’ after birth. The ductus …
Lissencephaly
What is Lissencephaly? Lissencephaly, literally meaning “smooth brain”, can be defined as a rare type of brain formation disorder that is caused by improper neuronal migration during the 12th-24th …
Atrioventricular Septal Defect
What is Atrioventricular Septal Defect? Atrioventricular septal defect (AVSD), also known as ‘Atrioventricular canal defect,’ is a form of congenital heart disease. It is characterized by a problem with …
Bronchogenic Cyst
Bronchogenic Cyst Definition These are cysts or sinuses that are small in size and are solitary. They are located in the region of suprasternal notch or over the manubrium. …
Blepharophimosis
Blepharophimosis Definition Blepharophimosis is a condition in which the eyelid suffers from malformation and is characterized by four distinct features – blepharophimosis, ptosis, epicanthus inversus and telecanthus. All of …
Alkaptonuria (Alcaptonuria)
Alkaptonuria Definition Alkaptonuria is a genetic disorder in which the urine of the patient turns black once exposed to air. One of its important characteristic is Ochronosis, a condition …
Laryngocele
Laryngocele Definition Laryngocele refers to a congenital anomalous air sac which communicates with the cavity of the larynx which bulges outward. People who conduct forced expiration exert extreme pressure …
Bloom Syndrome
Bloom Syndrome Definition It is a rare form of inherited disorder that is also known as ‘Bloom-Torre-Machacek syndrome’. This condition was first described and discovered by the New York …
Moebius Syndrome
What is Moebius Syndrome? It is a very rare congenital neurological disease that causes facial paralysis and an inability to rotate the eyes from one side to another. Most …