AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation ScienceNamed GroupsHealth Care
ColobomaDown SyndromeSyndromeCostello SyndromePrurigoAbnormalities, MultipleMicrophthalmosChromosomes, Human, Pair 22AnophthalmosGenetic Diseases, InbornChoanal AtresiaDevelopmental DisabilitiesHeart Defects, CongenitalFetal DiseasesInfant, NewbornChromosome DisordersPedigreeBirth WeightPregnancyHypertelorismEye AbnormalitiesChromosome AberrationsPupil DisordersMutationPremature BirthIrisPAX2 Transcription FactorPosterior Eye SegmentBirth RateInfant, Low Birth WeightMetabolic Syndrome XFundus OculiChoroidCHARGE SyndromeEye
Choanal atresiaDefectAnomaliesEyelidOcularAbnormalitiesGoldenharHypoplasiaPtosisStrabismusChromosomalClinicalRetinalDisorder22q11.2 deletionGenesDiagnosisAnotiaLive birthsCleft palateSymptomsIrisMutationsBilateralDefectsTissueDysplasticInfantsOMIMFacialResult of a geneticMicrotiaGorlinSpectrumClinicallyAbnormalFeaturesDiseaseIncludeDiseasesFindingsIncompletelyAutosomal dominantOccursIndividuals
Choanal atresia3
  • Hubert von Lushka noted the constellation of cardiac, central nervous system, and genitourinary defects and choanal atresia in an infant who died soon after birth in 1859. (ochsnerjournal.org)
  • 2 , 3 In 1981, after reviewing the cases of 21 children, Pagon et al first proposed the diagnostic criteria for CHARGE syndrome to describe the nonrandom association of ocular coloboma (C), congenital heart defects (H), choanal atresia or stenosis (A), central nervous system/developmental anomalies (R), genital hypoplasia (G), and ear anomalies (E). 4 Since then, several cases and updates have been published. (ochsnerjournal.org)
  • The major criteria include ocular coloboma, choanal atresia, and semicircular canal hypoplasias. (ochsnerjournal.org)
Defect6
  • The focal dermal hypoplasia (FDH) genetic defect has been associated with at least 80 different mutations in the PORCN gene of the X chromosome (Xp11.23). (medscape.com)
  • 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)
  • About one third of patients with micrognathia have associated anomalies that suggest an underlying chromosomal defect or genetic syndrome. (msdmanuals.com)
  • Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. (nih.gov)
  • It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. (nih.gov)
  • Specific genetic testing - There are at least 20 known genetic causes of SCID, making it possible to identify an underlying genetic defect in about 90% of cases. (rarediseasesnetwork.org)
Anomalies7
  • When other anomalies are present, a clinical geneticist can help guide the evaluation because identification of the underlying syndrome is important for prognosis and family counseling. (msdmanuals.com)
  • Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al. (nih.gov)
  • Other anomalies and syndromes, especially those involving the mandible and face. (cdc.gov)
  • Look for microtia/anotia occurring in conjunction with other anomalies and syndromes, especially those involving the mandible and face. (cdc.gov)
  • Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. (nih.gov)
  • There is no treatment for the overall condition but individual anomalies such as the colobomas, dental deformities and cleft palate may be surgically repaired. (arizona.edu)
  • In the absence of other anomalies, it is called isolated Duane syndrome. (arizona.edu)
Eyelid2
Ocular1
  • 2014). For a discussion of genetic heterogeneity of ocular coloboma, see 120200. (nih.gov)
Abnormalities5
  • Individuals with Donnai-Barrow syndrome have severe hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). (wikipedia.org)
  • Occasionally people with Donnai-Barrow syndrome have abnormalities of the intestine, heart, or other organs and scoliosis. (wikipedia.org)
  • The jaw can be missing, deformed, or incompletely developed at birth, often in conjunction with other congenital abnormalities and syndromes. (msdmanuals.com)
  • Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. (nih.gov)
  • Other abnormalities aside from facial and spinal can also be present in Goldenhar syndrome. (syndromespedia.com)
Goldenhar17
Hypoplasia5
  • Focal dermal hypoplasia (FDH) is an uncommon genetic disorder affecting tissues of ectodermal and mesodermal origin. (medscape.com)
  • The eponyms of focal dermal hypoplasia should not to be confused with Gorlin syndrome or Gorlin-Goltz syndrome, which is the nevoid basal cell carcinoma syndrome . (medscape.com)
  • Focal dermal hypoplasia is also known as Goltz syndrome or Goltz-Gorlin syndrome. (medscape.com)
  • Focal dermal hypoplasia is present at birth but may evolve thereafter and, in mildly affected individuals, may be recognized only later in life. (medscape.com)
  • Hypoplasia or even aplasia of the eyelids maybe present and some individuals have colobomas of the lower eyelids. (arizona.edu)
Ptosis1
  • A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. (nih.gov)
Strabismus1
Chromosomal3
  • Genetic or chromosomal testing. (cdc.gov)
  • 1%) of individuals with clinical findings of the 22q11.2 deletion syndrome have chromosomal rearrangements involving 22q11.2, such as a translocation between chromosome 22 and another chromosome. (22q.org)
  • In contrast, international collection of detailed phenotypes lags behind the collection of genetic data because only a minority of rare chromosomal aberration cases are submitted to international databases like DECIPHER ( https://www.deciphergenomics.org ), and case reporting relies on health professionals having the time and willingness to submit information. (biomedcentral.com)
Clinical6
  • However, a clinical genetic evaluation is recommended even in cases of apparent isolated congenital anomaly. (msdmanuals.com)
  • FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. (nih.gov)
  • Surprisingly how thalidomide causes birth defects and how it acts in the treatment of clinical conditions are still far from clear. (hindawi.com)
  • The choice of clinical criteria allowed these clinical classifications to become useful tools for clinical practice and genetic counseling. (docksci.com)
  • Clinical-based classifications improve syndrome identification and Ó 2014 Wiley Periodicals, Inc. (docksci.com)
  • Chung M, Stout JT, Borchert MS. Clinical diversity of hereditary Duane's retraction syndrome . (arizona.edu)
Retinal1
  • Achromatopsia is a predominantly stable/slowly progressive retinal dystrophy characterised by the lack of function in all three classes of cone photoreceptors (S-cones, M-cones and L-cones) from birth or early infancy. (gene.vision)
Disorder8
  • Donnai-Barrow syndrome is a genetic disorder first described by Dian Donnai and Margaret Barrow in 1993. (wikipedia.org)
  • It is an inherited (genetic) disorder that affects many parts of the body. (wikipedia.org)
  • A condition previously classified as a separate disorder called facio-oculo-acoustico-renal (FOAR) syndrome has also been found to be caused by LRP2 mutations. (wikipedia.org)
  • FOAR syndrome is now considered to be the same disorder as Donnai-Barrow syndrome. (wikipedia.org)
  • Donnai-Barrow syndrome appears to be a rare disorder. (wikipedia.org)
  • CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. (nih.gov)
  • At one point the syndrome was considered to be a myopathic disorder based on histologic changes in the lateral rectus but current thought based on MRI and neurohistologic studies favors a neuropathic etiology. (arizona.edu)
  • Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. (mendelian.co)
22q11.2 deletion3
  • A few individuals with findings of the 22q11.2 deletion syndrome have normal routine cytogenetic studies and no deletion by FISH, MLPA, CGH or microarray. (22q.org)
  • Chromosome 22q11.2 deletion syndrome (22qDS) includes DGS and other similar syndromes, such as velocardiofacial syndrome. (medilib.ir)
  • See "DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis" and "DiGeorge (22q11.2 deletion) syndrome: Management and prognosis" . (medilib.ir)
Genes1
  • Genetic tests can be done to determine if the genes involved in this disease are missing or changed. (medlineplus.gov)
Diagnosis3
  • In order to characterise this syndrome better, facilitate the diagnosis, and provide targeted health care for affected individuals, we have studied 33 patients (32 new observations) with a pure 22q13 partial monosomy, using molecular and cytogenetic methods. (bmj.com)
  • In spite of such difficulties, a correct diagnosis is important for genetic counseling, treatment decisions, follow-up and long-term outcome forecast [Ma¨kitie, 2011]. (docksci.com)
  • In this case fast, targeted genetic analysis can give you a more accurate diagnosis. (fdna.health)
Anotia2
  • Microtia/anotia is a congenital malformation of the ear in which the external ear (auricle) is underdeveloped and either abnormally shaped (microtia) or absent (anotia). (cdc.gov)
  • The ears may appear smaller than normal (microtia), or in some cases they may be absent (anotia). (syndromespedia.com)
Live births1
Cleft palate1
  • They may involve only a single, specific site (eg, cleft lip, cleft palate, clubfoot) or be part of a syndrome of multiple. (msdmanuals.com)
Symptoms3
  • INTRODUCTION - DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. (medilib.ir)
  • A syndrome, by definition, is a group of signs and symptoms that occur together and form an identifiable pattern. (fdna.health)
  • Symptoms affecting the ears may be congenital, present at birth, or they may develop later in life. (fdna.health)
Iris2
  • Some have a gap or split in the colored part of the eye (iris coloboma). (wikipedia.org)
  • Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. (nih.gov)
Mutations3
  • Mutations in the LRP2 gene cause Donnai-Barrow syndrome. (wikipedia.org)
  • LRP2 gene mutations that cause Donnai-Barrow syndrome are believed to result in the absence of functional megalin protein. (wikipedia.org)
  • Duane Retraction Syndrome (DURS3) ( 617041 ) patients with mutations in MAFB may have sensorineural hearing loss. (arizona.edu)
Bilateral1
  • Rare presentations include unilateral (occasionally bilateral and lethal at birth) renal agenesis, hearing impairment, cleft lip or palate, dental agenesis or bimanual synkinesis persisting beyond childhood. (symptoma.com)
Defects8
  • Wynshaw-Boris A, Klein O. Developmental genetics and birth defects. (medlineplus.gov)
  • Thalidomide remains one of the world's most notorious drugs due to the severe birth defects it induced in children between 1957 and 1962. (hindawi.com)
  • The purpose of this review is to look at the recent work carried out into understanding how thalidomide causes birth defects, it's molecular targets and the challenges that remain to be elucidated. (hindawi.com)
  • However soon after the drug's release in Europe reports linked thalidomide to causing peripheral neuropathy in adult patients (which prevented its licensing and general release in the USA) as well as being behind the occurrence of a high and sudden increase of rare birth defects [ 3 , 5 - 8 ]. (hindawi.com)
  • The range and type of birth defects seen were unprecedented with the most striking and stereotypic feature being phocomelia, where the handplate remains but the proximal elements are missing or very short. (hindawi.com)
  • Dr. Kelsey undoubtedly prevented an epidemic of thalidomide-induced birth defects in the USA and for her efforts was subsequently given the President's Award for Distinguished Federal Civilian Service by President John F. Kennedy in 1962 [ 4 ]. (hindawi.com)
  • This sets up a blueprint for the body to form affecting cells derived from the neural crest often resulting in the birth defects outlined above. (22q.org)
  • mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. (nih.gov)
Tissue1
  • In almost all people with Donnai-Barrow syndrome, the tissue connecting the left and right halves of the brain (corpus callosum) is underdeveloped or absent. (wikipedia.org)
Dysplastic1
  • The abducens motor neurons and the sixth nerve may be absent or dysplastic. (arizona.edu)
Infants2
  • The aim of the present study, endorsed by the Union of European Neonatal and Perinatal Societies (UENPS) and the Italian Society of Neonatology (SIN), was to analyze the current delivery room (DR) stabilization practices in a large sample of European birth centers that care for preterm infants with gestational age (GA) (bvsalud.org)
  • With the introduction of newborn screening for SCID in a number of states in the United States and in Ontario in Canada, young infants are increasingly being diagnosed with SCID soon after birth, before the onset of serious infections. (rarediseasesnetwork.org)
OMIM2
  • Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome ( OMIM ). (mendelian.co)
  • For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 ( OMIM ). (mendelian.co)
Facial1
  • The overall facial appearance may resemble Cornelia de Lange syndrome with hypertrichosis and a coarse, round facies. (arizona.edu)
Result of a genetic2
  • 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)
  • Hypotonia may be the result of a genetic syndrome. (fdna.health)
Microtia1
  • The spectrum of severity in microtia ranges from a measurably small external ear (defined as longitudinal ear length below minus two SD from the mean, or approximately 3.3 cm in the term newborn) with minimal structural abnormality, to an ear that consists of few rudimentary structures and an absent or blind-ending external ear canal. (cdc.gov)
Gorlin1
Spectrum1
  • 5 , 17 , 18 , 25 , 27 These chromodomain helicase DNA (CHD) binding proteins affect a large number of developmental pathways, resulting in the varied phenotypic spectrum observed in CHARGE syndrome. (ochsnerjournal.org)
Clinically3
  • PC onset is variable with most cases manifesting soon after birth, others becoming clinically apparent only in late childhood and rarely in adulthood. (findzebra.com)
  • It has been estimated that half of retinoblastomas actually may be present at birth but are inapparent clinically. (entokey.com)
  • Duane retraction syndrome is a clinically and genetically heterogeneous condition with a highly variable phenotype. (arizona.edu)
Abnormal1
  • In leukocoria, the red reflex is either absent or a white, yellow, pale, or otherwise abnormal light reflection seen in the pupil of one or both eyes. (eyepatient.net)
Features6
  • The features of Donnai-Barrow syndrome are probably caused by the inability of megalin to help absorb these ligands, disruption of biochemical signaling pathways, or other effects of the nonfunctional megalin protein. (wikipedia.org)
  • Other associated features include reduced visual acuity (VA), impaired or absent colour vision (in all three axes) and central scotoma. (gene.vision)
  • Monogenic genetic disorders constitute a very large group of rare conditions, each of which is defined by a characteristic combination of phenotypic features. (docksci.com)
  • Sometimes, the difference between syndromes comes down to one or to a few features [Brunner and van Driel, 2004]. (docksci.com)
  • Features of Duane syndrome are also part of the Duane-Radial Ray Syndrome ( 607323 ). (arizona.edu)
  • In some instances low muscle tone may be one of the features of a rare disease or genetic syndrome. (fdna.health)
Disease4
  • Rubinstein-Taybi syndrome (RTS) is a genetic disease. (medlineplus.gov)
  • Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy. (medlineplus.gov)
  • Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome. (fdna.health)
  • In the Standard Poodle, sebaceous adenitis is likely a recessive genetic trait, though not all dogs who are genetically able to express the disease will actually go on to actually express the disease. (vin.com)
Include3
  • Syndromes to be considered include agnathia-holoprosencephaly, otocephaly, a severe form of cerebrocostomandibular syndrome, and Ivemark syndrome. (msdmanuals.com)
  • The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. (nih.gov)
  • Other breeds that seem to have a genetic predisposition to sebaceous adenitis include the Chow Chow, Samoyed, Viszla, and Havanese (particularly prone to lesions on the ears) but any dog breed can be affected. (vin.com)
Diseases1
  • The terminal regions of human chromosomes are known to contain specialised DNA sequences and may be vulnerable to rearrangements causing human genetic diseases and particularly idiopathic mental impairment. (bmj.com)
Findings1
Incompletely1
  • The temporomandibular joints are absent and the external ear canals are often incompletely formed. (arizona.edu)
Autosomal dominant3
  • Genetic Considerations ADPKD is inherited as an autosomal dominant trait with complete penetrance but variable expressivity. (basicmedicalkey.com)
  • Duane syndrome 1 described here follows an autosomal dominant pattern. (arizona.edu)
  • Individuals having Duane Retraction Syndrome 2 (DURS2) ( 604356 ) are often found in autosomal dominant pedigrees also. (arizona.edu)
Occurs2
  • They are likely due to a new genetic variant that occurs either in the sperm or egg cells, or at the time of conception. (medlineplus.gov)
  • The syndrome occurs predominantly in females. (medscape.com)
Individuals2
  • Affected individuals often are recognized at birth or occasionally prenatally, but cases involving a minor expression of the syndrome may be diagnosed later in life. (medscape.com)
  • These individuals may have a change in a gene within the regions, such as TBX1, or a different condition such as CHARGE syndrome. (22q.org)