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)

11 month old male child with these visible skin tags. what other systemic examination required to further evaluate for any syndrome.

SPOTTER- 6yr old girl, presented with following findings- B/L. Diagnosis, associated syndromes/ conditions and management. What is the embryologic significance

A 28 day old fch born out of non consanguineous marriage presented with inability to feed ( drooling) , poor cry, hand and limb deformities , depression of angle of mouth while crying. pinna deformed

1 year female child. Apart from what is seen in pic and x ray child has the following features. Failure to thrive - current weight 4.5 kg Wide open AF MICROCEPHALY (OFC 41 cm) Global hypotonia Global developmental delay (sits with support, babbles) Short stubby fingers with cleinodactyly Polydactyly of right lower limb Mongolian spots Divarication of recti Umbilical hernia Discuss 1. Finding in pic and x ray 2. Possible syndromes 3. Approach to a syndromic baby 4. Timing of cleft surgeries