RARE BIRTH DEFECTS: A birth defect is a health condition that is present at birth. Birth defects may change the shape or function of one or more parts of the body. They can cause problems in overall health, how the body develops, or how the body works. One in 33 babies in the United States is born with a birth defect. We don’t know the cause of all birth defects. Some may be caused by the genes we inherit from our parents. Others may be caused by environmental factors, like exposure to harmful chemicals. Some may be caused by a combination of genes and environment. In most cases, the causes are unknown. What are rare birth defects? There are thousands of different birth defects. The most common are heart defects, cleft lip and palate, Down syndrome and spina bifida. Others, such as the ones listed below, are rare and less well known. Use the links to find out more information about these birth defects. Or visit the Office of Rare Disease Research or Genetics Home Reference. Rare birth defects include: 22q11.2 deletion syndrome (DiGeorge Syndrome and Velocardiofacial syndrome)Albinism, ocularAlbinism, oculocutaneousAnencephaly (a neural tube defect)Arnold-Chiari malformation (chiari malformation)CHARGE syndromeCongenital adrenal hyperplasiaCongenital diaphragmatic hernia (CDH)Congenital hydrocephalusCraniosynostosisDandy Walker malformationEhlers Danlos syndromeEpidermolysis bullosaGorham's diseaseHashimoto's syndrome (autoimmune thyroiditis)Hydrops fetalis (immune and nonimmune)HypotoniaKlippel-Feil syndromeMuscular dystrophyOsteogenesis imperfectaProgeriaSmith Lemli Opitz syndromeSpinal muscular atrophyTuberous sclerosisTurner syndromeX-linked lymphoproliferative syndrome (Duncan disease)

5yr old twins with h/o brown discolouration of both eyes with clear tears like discharge for 3 yrs.Started gradually and progressing over the years.N/H/O itching and pus discharge.However they can not see in sunlight.They have got some kind of photophobia.no known allergy.no hx of similar problem in the family.what are the differentials?

History of white patchy hair with deafness blue eyes decrease in intellectual function Any differentials ??

31 yrs male came with chronic history of sob and cough with expectoration; pt is having albinism; planned for lung transplantation ; diagnosis

Oculocutaneous albinism Photophobia Squint UMN features Microcephaly Recurrent bruising Hepatosplenomegaly Left hemothorax and fracture rib following fall from bed INR: Normal Platelets: 4 lacs TLC: 20000 NO fever Differential diagnosis (Other than Battered baby syndrome)