Perthes Disease
What is Perthes disease? Perthes disease is a rare kind of disability, primarily affecting the hip joint of children. It is characterized by the softening and ultimate breaking down …
Category: Genetics and Birth Defects
Jacobsen Syndrome
What is Jacobsen Syndrome Jacobsen syndrome or JBS, named after the Danish physician Petra Jacobsen who first identified and described it 1973, is a rare condition characterized by the …
Cri du chat
Cri du chat Definition Cri du chat is a rare genetic condition that occurs when a part of chromosome number 5 is absent.
Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia Definition Craniodiaphyseal dysplasia is a very rare genetic disorder of the bone . Only around 30 cases of its have been reported so far. It is also …
Cornelia de lange syndrome
Cornelia de lange syndrome Definition Cornelia de lange syndrome (CdLS) is a congenital defect that is not always detected at birth.
Craniosynostosis
Craniosynostosis Definition This is a congenital defect in which one or more joints in between the bones in the skull of a newborn close even before the brain has …
Calciphylaxis
Calciphylaxis Definition It is a syndrome that is a combination of vascular calcication, skin necrosis and thrombosis. A rare and serious disorder, it is characterized by systematic medial calcification …
Patau Syndrome
Patau Syndrome is a fatal genetic condition that gives rise to cardiac problems and a host of other symptoms in sufferers. Read and know all about this disorder, including …
Tuberous sclerosis
Tuberous sclerosis is a rare genetic disease resulting in the growth of many noncancerous tumors on various important organs. Read and know all about the disease, including its possible …
Thalassemia
Thalassemia is a genetic disease infecting four out of every 100,000 people in the United States alone. Read and know all about the disorder, including its possible types, causes, …
Teratoma
Teratoma is a form of neoplasm that causes abdominal pressure and inflammation and even cancerous developments in sufferers. Read and know all about the condition, including its causes, symptoms, …
Spherocytosis
Spherocytosis is an unusual genetic disorder that affects a sizeable population around the world. Read and know all about this potentially life-threatening condition, including its possible causes, symptoms, diagnosis …
Sanfilippo Syndrome
What is Sanfilippo Syndrome? Sanfilippo Syndrome is a type of rare form of lysosomal storage disease that is inherited in an autosomal recessive pattern. It occurs due to a …
Usher’s Syndrome
Usher’s Syndrome Definition It is an inherited condition that leads to acute loss of hearing and retinitis pigmentosa, a disease of the eye that leads to worsening of vision …
Von Willebrand Disease
What is Von Willebrand Disease? Von Willebrand disease (vWD) is the most prevalent congenital coagulation abnormality that is observed in human beings, although an individual can also acquire the …
Phenylketonuria
What is Phenylketonuria? It is a rare genetic disease in which the body of an individual is unable to break down Phenylalanine, a type of amino acid. It is …
Polycystic kidney disease
Have you been lately suffering from an enlarged abdomen, flank pain and excessive urination at night? Know all about Polycystic Kidney Disease, a condition you are probably suffering from, …
Polydactyly
Have you ever seen a person with an extra finger or toe and wondered what the condition could be? It is a type of Polydactyly that the individual is …
Laryngomalacia
Is your newborn making abnormal sounds while breathing? Watch out, for it may be a case of Laryngomalacia that is the actual cause. Read and know all about the …
Pectus excavatum
Pectus excavatum Definition Physicians and medical researchers define Pectus excavatum (PE) as a congenital defect of the chest wall characterized by a sunken middle section of the chest. In …
Albinism
Albinism generally encompasses a group of hereditary conditions that involve unusual cases of hypopigmentation. Get to know all about this condition in detail, including its causes, symptoms, diagnosis, treatment …
Aarskog Syndrome
What is Aarskog Syndrome? It is an extremely rare genetic disorder which affects the height, muscles, skeleton, genitals and also the facial appearance of a person. It causes facial …
Brugada Syndrome
In Thailand and Laos, Brugada Syndrome is one of the most common causes of sudden death in young males without any underlying cardiac ailments. Find out more about the …
Nemaline Myopathy
Nemaline Myopathy Definition Nemaline myopathy (NM) is an inherited congenital neuromuscular condition characterized by skeletal muscle weakness in various parts of the body.
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
Hereditary Hemorrhagic Telangiectasia Definition Hemorrhagic Telangiectasia Definition (HHT) is an inherited condition which results in the formation of abnormal blood vessels known as arteriovenous malformations (AVM) in different areas …