• iris
  • Some have a gap or split in the colored part of the eye (iris coloboma). (wikipedia.org)
  • In addition, some tissue from the colored portion of the eye (iris) may be absent (coloboma), giving the iris a "keyhole" appearance. (rarediseases.org)
  • The baby had many malformations which included coloboma of iris, bilateral choanal atresis, short hands, retrognanthia, low posterior hair line, short and broad nose, bulging mobile chest, flat abdomen, poorly developed scrotum with un-descended testis, micropenis and sandle gap between great and second toe (Figure 1 and 2). (indmedica.com)
  • Coloboma of the eye means a wedge-shaped piece is missing from the iris, or some other part of the eye is missing. (rachel.org)
  • million births
  • 2 3 The largest study (of close to 5.7 million births) reported a prevalence of 1.5 per 10 000. (bmj.com)
  • The current BDMP database includes information on roughly 15 million births that have occurred at 1200 predominantly mid-sized community hospitals in the U.S. during the past 20 years. (rachel.org)
  • choanal atresia
  • Bilateral choanal atresia is a very serious life-threatening condition because the baby will then be unable to breathe directly after birth as babies are obligate nasal breathers (they mainly use their noses to breathe). (wikipedia.org)
  • A 2012 epidemiological study looked at atrazine, a commonly used herbicide in the U.S., and found that women who lived in counties in Texas with the highest levels of this chemical being used to treat agricultural crops were 80 times more likely to give birth to infants with choanal atresia or stenosis compared to women who lived in the counties with the lowest levels. (wikipedia.org)
  • In 1998, an expert group defined the major criteria (classical 4C's: choanal atresia, coloboma, characteristic ears and cranial nerve anomalies) and minor criteria of the CHARGE syndrome. (indmedica.com)
  • phenotype
  • Otodental syndrome, also known as otodental dysplasia, is an exceptionally rare disease that is distinguished by a specific phenotype known as globodontia, that in rare cases can be associated with eye coloboma and high frequency hearing loss. (wikipedia.org)
  • Haploinsufficiency in the fibroblast growth factor 3 (FGF3) gene (11q13) has been reported in patients with otodental syndrome and is thought to cause the phenotype. (wikipedia.org)
  • The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluorescence in situ hybridization (FISH). (wikipedia.org)
  • abnormal
  • Operative measures should be pursued cautiously, with avoidance of radical measures and careful consideration of the abnormal muscle physiology in Freeman-Sheldon syndrome. (wikipedia.org)
  • Due to the abnormal muscle physiology in Freeman-Sheldon syndrome, therapeutic measures may have unfavourable outcomes. (wikipedia.org)
  • Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine (scoliosis), thoracic lordosis, abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum, abnormal joint flexibility, a high-arched palate with crowded teeth and an overbite, flat feet, hammer toes, stooped shoulders, and unexplained stretch marks on the skin. (wikipedia.org)
  • eyelids
  • Most affected people also experience eye problems, including colobomata (notches) in the lower eyelids, partial or complete absence of eyelashes on the lower lid, downward angled eyelids, drooping of upper and lower eyelids, and narrowing of the tear ducts. (wikipedia.org)
  • atresia
  • CHARGE Syndrome' was initially defined as a non-random association of anomalies (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness). (indmedica.com)
  • CHARGE' is an acronym for coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality and ear abnormality. (indmedica.com)
  • defect
  • This potentially serious birth defect allows the stomach and intestines to move into the chest and possibly crowd the developing heart and lungs. (wikipedia.org)
  • Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter syndrome. (wikipedia.org)
  • anomalies
  • Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp, associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system, and genitourinary system. (wikipedia.org)
  • Cardiac anomalies, defined as structural abnormalities of the heart or intrathoracic vessels, taking all the different anatomic forms together, are some of the most common congenital anomalies at birth. (scielo.br)
  • Microlissencephaly, in turn, can be subclassified based on imaging and clinical picture into 4 types: Microlissencephaly Type A or Norman-Roberts syndrome (NRS): a microlissencephaly with thick cortex without infratentorial anomalies. (wikipedia.org)
  • mutation
  • A US study of 110 individuals with CHARGE syndrome showed that 60% of those tested had a mutation of the CHD7 gene. (wikipedia.org)
  • In 2010, a review of 379 clinically diagnosed cases of CHARGE syndrome, in which CHD7 mutation testing was undertaken found that 67% of cases were due to a CHD7 mutation. (wikipedia.org)
  • It is thought to result from genetic mosaicism, possibly an autosomal dominant mutation arising after conception and present only in a subpopulation of cells. (wikipedia.org)
  • In individuals without an identified mutation in one of these genes, the genetic cause of the condition is unknown. (wikipedia.org)
  • Sox2 anophthalmia syndrome is caused by a mutation in the Sox2 gene that does not allow it to produce the Sox2 protein that regulates the activity of other genes by binding to certain regions of DNA. (wikipedia.org)
  • Sox2 anophthalmia syndrome is an autosomal dominant inheritance, but the majority of patients who suffer from Sox2 anophthalmia are the first in their family history to have this mutation. (wikipedia.org)
  • gene
  • The PAX6 gene is part of a "family" of genes that are needed for forming tissues and organs during embryonic development, and for maintaining normal function of certain cells after birth. (nih.gov)
  • Genetic testing for CHARGE syndrome involves specific genetic testing for the CHD7 gene. (wikipedia.org)
  • Although in individuals with signs of ocular coloboma, a microdeletion in the Fas-associated death domain (FADD) gene (11q13.3) was also found to be responsible. (wikipedia.org)
  • One individual with Donnai-Barrow syndrome was found to have inherited both copies of the mutated gene from his father as a result of a genetic change called uniparental disomy (UPD). (wikipedia.org)
  • BCOR (MAA2 locus) is the only gene known to be associated with this syndrome. (rarediseases.org)
  • No person with Aicardi syndrome is known to have transmitted the X-linked gene responsible for the syndrome to the next generation. (wikipedia.org)
  • MIM #601680) gene, a syndrome very similar in phenotypic expression to classic FSS, to 11p15.5-pter. (wikipedia.org)
  • ACTG1 is the same gene that, when mutated, causes Baraitser-Winter syndrome. (wikipedia.org)
  • The most genetic based cause for anophthalmia is caused by the SOX2 gene. (wikipedia.org)
  • Prevalence
  • Prevalence is unknown, but Epidermal nevus syndrome is listed with the National Organization for Rare Disorders, which defines rare as affecting "fewer than 200,000 people in the United States. (wikipedia.org)
  • To estimate the prevalence rate and study the clinical presentation and associated factors of congenital heart diseases diagnosed at birth between August 1990 and December 2003, at the Maternity Unit of the Hospital das Clínicas, Universidade Federal de Minas Gerais, Brazil. (scielo.br)
  • Worldwide prevalence of Aicardi Syndrome is estimated at several thousand, with approximately 900 cases reported in the United States. (wikipedia.org)
  • individuals
  • The age range of the individuals reported with Aicardi syndrome is from birth to the mid 40s. (wikipedia.org)
  • These cases are very rare, and most of the affected individuals die before birth or shortly after. (wikipedia.org)
  • About 1 in 5,000 to 10,000 individuals have Marfan syndrome. (wikipedia.org)
  • Many individuals with Marfan syndrome grow to above-average height, and some have disproportionately long, slender limbs with thin, weak wrists and long fingers and toes. (wikipedia.org)
  • Over 180 individuals with the syndrome have been described in the international medical literature. (socialstyrelsen.se)
  • The syndrome has been observed exclusively in individuals with two X chromosomes, and only one familial case is known (3,4). (slideshare.net)
  • dysplasia
  • Freeman-Sheldon syndrome (FSS), also termed distal arthrogryposis type 2A (DA2A), craniocarpotarsal dysplasia (or dystrophy), Cranio-carpo-tarsal syndrome, Windmill-Vane-Hand syndrome, or Whistling-face syndrome, was originally described by Freeman and Sheldon in 1938. (wikipedia.org)
  • choroid
  • Colobomas may also affect other eye tissues including the ciliary body, choroid, and/or optic disc. (rarediseases.org)
  • A number of tumors have been reported in association with Aicardi syndrome: choroid plexus papilloma (the most common), medulloblastoma, gastric hyperplastic polyps, rectal polyps, soft palate benign teratoma, hepatoblastoma, parapharyngeal embryonal cell cancer, limb angiosarcoma and scalp lipoma. (wikipedia.org)
  • Brachycephaly
  • Although an abnormally shaped skull is not distinctive for Treacher Collins syndrome, brachycephaly with bitemporal narrowing is sometimes observed. (wikipedia.org)
  • partial
  • In Marfan syndrome, the health of the eye can be affected in many ways but the principal change is partial lens dislocation, where the lens is shifted out of its normal position. (wikipedia.org)
  • normally
  • When it doesn't fuse normally, it results in a coloboma in the affected location of the eye. (nih.gov)
  • The hypothalamic-pituitary-gonadal axis (HPG axis) functions normally at birth and well into adult life giving normal puberty and normal reproductive function. (wikipedia.org)
  • A significant number of girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. (wikipedia.org)