AnomaliesAbnormalitiesPOLYDACTYLYHypoplasiaCongenital malformationToesDandy-Walker MalfoBrachydactylyCardiac malformationsArteriovenous malformationLimbCraniosynostosisLimbsBilateralLaryngealSyndrome characterizedScreened for congenitalMusculoskeletalCleft lipCorpus callosumDisorderInvolvesRenalSkeletal systemPrenatalSevereMicrognathiaMacrodactylyOccursOrganTypicallyCentralIncidenceLiverPlateletsTrimesterDefectsDigitTissueCharacteristicFetalBonesLymphaticPulmonaryHands
Anomalies7
- The term sequence has been introduced to include any condition that includes a series of anomalies caused by a cascade of events initiated by a single malformation. (medscape.com)
- Other skeletal anomalies include brachydactyly, clinodactyly of the 5th finger, 2-3 toe syndactyly and scoliosis. (orpha.net)
- Dandy-Walker malformation, variant, and mega cisterna magna are currently believed to represent a continuum of developmental anomalies on a spectrum that has been termed the Dandy-Walker complex. (medscape.com)
- A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract. (beds.ac.uk)
- This photo shows radial atresia of the right arm in a patient with VACTERL ( v ertebral anomalies, a nal atresia, c ardiac malformations, t racheo e sophageal fistula, r enal anomalies and r adial aplasia, and l imb anomalies) syndrome. (msdmanuals.com)
- Congenital disorders include minor physical anomalies (e.g., a birthmark ), severe malformations of single systems (e.g., congenital heart disease or dysmelia ), and combinations of abnormalities affecting several parts of the body. (wikidoc.org)
- Although other digital anomalies have previously been described with brachydactyly type B, the absent digit, atypical syndactyly and marked asymmetry in this child make this case a good illustration of the clinical heterogeneity that can be associated with this type of brachdactyly. (lookfordiagnosis.com)
Abnormalities3
- Organ malformations include cardiac, renal and central nervous system abnormalities. (orpha.net)
- First described by Wheaton 1 in 1894 and later by Apert in 1906, 2 Apert syndrome, or acrocephalosyndactyly, is an autosomal dominant malformation syndrome characterized by craniosynostosis, midface hypoplasia, syndactyly, and various visceral abnormalities. (contemporarypediatrics.com)
- Large chromosomal abnormalities always produce effects on many different body parts and organ systems. (wikidoc.org)
POLYDACTYLY2
- Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly). (nih.gov)
- All forms of ACPS are characterized by webbing or fusion (syndactyly) of certain fingers and/or toes (digits), more than the expected number of digits (polydactyly), and by the premature closure of the fibrous joints (cranial sutures) between certain bones of the skull, which is known as craniosynostosis and causes the top of the head to appear pointed or cone-shaped (acrocephaly). (diseasesdic.com)
Hypoplasia3
- Malformations in the central nervous system are frequent and may include microcephaly, lissencephaly or microgyria, hypoplasia of the cerebellum and agenesis of the corpus callosum. (wikipedia.org)
- Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. (bvsalud.org)
- Dandy-Walker malformation is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. (medscape.com)
Congenital malformation3
- Dandy-Walker malformation is a rare congenital malformation that involves the cerebellum and fourth ventricle. (medscape.com)
- A congenital malformation is a congenital physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. (wikidoc.org)
- Birth defect is a widely-used term for a congenital malformation, i.e. a congenital, physical anomaly which is recognizable at birth, and which is significant enough to be considered a problem. (wikidoc.org)
Toes3
- We report a case of a female fetus born to an unrelated couple with a complex fetal phenotype of a pleural effusion, a cardiac malformation, and syndactyly of the toes. (bvsalud.org)
- and partial fusion (syndactyly) of the second and third toes. (medlineplus.gov)
- Many individuals with Hennekam syndrome have growth delay, respiratory problems, permanently bent fingers and toes (camptodactyly), or fusion of the skin between the fingers and toes (cutaneous syndactyly). (beds.ac.uk)
Dandy-Walker Malfo11
- A large number of concomitant problems may be present, but Dandy-Walker malformation is recognized whenever these 3 features are found. (medscape.com)
- Dandy-Walker malformation may be associated with atresia of the foramen of Magendie and, possibly, the foramen of Luschka. (medscape.com)
- See the Dandy-Walker malformation images provided below. (medscape.com)
- Dandy-Walker malformation was first described by Dandy and Blackfan in 1914. (medscape.com)
- Not until 1954 did Benda first emphasize that atresia of the cerebellar outlet foramina is not an essential feature of the condition and suggested the now widely accepted term Dandy-Walker malformation. (medscape.com)
- Classically, posterior fossa cystic malformations have been divided into Dandy-Walker malformation, Dandy-Walker variant, mega cisterna magna, and posterior fossa arachnoid cyst. (medscape.com)
- Since the vermis is present in posterior fossa arachnoid cyst, this is considered separately from Dandy-Walker malformation. (medscape.com)
- This sagittal T1-weighted MRI shows a large retrocerebellar cerebrospinal fluid collection and a normal fourth ventricle and vermis in a patient with mega cisterna magna in Dandy-Walker malformation. (medscape.com)
- Dandy-Walker malformation is a congenital brain condition. (fdna.health)
- Treatment for Dandy-Walker malformation involves a cerebral shunt to drain the excess fluid. (fdna.health)
- In some instances enlarged Dandy-Walker malformation may be one of the features of a rare disease or genetic syndrome. (fdna.health)
Brachydactyly1
- We present a male child with digital and radiographic findings consistent with brachydactyly type B. His left hand had 2-4 syndactyly , shortened first and fifth digits and single palmar and fifth finger flexion creases. (lookfordiagnosis.com)
Cardiac malformations1
- An X-linked variant has been reported involving cardiac malformations and clubfeet. (medscape.com)
Arteriovenous malformation1
- In select cases, such as newborns with multiple hemangiomas or heart failure, the anterior fontanel is auscultated to detect a bruit, which can indicate an arteriovenous malformation. (aafp.org)
Limb2
- Limb malformations are common and involve the fingers (syndactyly), hands or feet. (wikipedia.org)
- A limb malformation is called a dysmelia . (wikidoc.org)
Craniosynostosis1
- Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. (beds.ac.uk)
Limbs1
- Phocomelia is an extremely rare congenital disorder involving malformation of the limbs ( dysmelia ). (wikipedia.org)
Bilateral3
- Fraser syndrome is a rare, autosomal recessive disorder characterized by cryptophthalmos, syndactyly, and renal agenesis or obstructive uropathy.100 The cryptophthalmos is present in 85% and is bilateral in 70% of these cases. (curvesandchaos.com)
- Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. (ac.ir)
- The temporal bone CT examination of a 16-year-old female patient with the LADD syndrome or Levy-Hollister syndrome showed multiple bilateral middle as well as inner ear malformations. (lookfordiagnosis.com)
Laryngeal1
- The main features are cryptophthalmos, ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver and central nervous system (CNS). (curvesandchaos.com)
Syndrome characterized1
- EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. (bvsalud.org)
Screened for congenital2
- Six hundred and sixty seven children, aged 0-18 months, were screened for congenital malformations in Denizli front December 1995 to February 1996. (selcukmedj.org)
- Therefore, congenital malformations will were examined and screened for congenital begin to emerge as one of the major child- malformations by a paediatrician. (who.int)
Musculoskeletal2
- Our Orthopedic Center is nationally known as the preeminent center for the care of children and young adults with a wide range of developmental, congenital, neuromuscular, sports-related, traumatic, and post-traumatic problems of the musculoskeletal system. (childrenshospital.org)
- The skin, the musculoskeletal system, the central nervous system, and adipose tissues are affected the most, producing profound disfigurement and life-threatening complications. (symptoma.com)
Cleft lip1
- Additional facial malformations may be present, such as cleft lip or cleft palate. (wikipedia.org)
Corpus callosum1
- Patients may have malformations of the corpus callosum and limbic structures with ventriculomegaly that leads to hydrocephalus. (contemporarypediatrics.com)
Disorder6
- or 3-phosphoglycerate dehydrogenase deficiency, neonate form) is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations. (wikipedia.org)
- It was first described by Dr. Richard Neu in 1971 and Dr. Renata Laxova in 1972 as a lethal disorder in siblings with multiple malformations. (wikipedia.org)
- Treatment of FS may include surgery to correct some of the malformations associated with this disorder depending on their severity. (curvesandchaos.com)
- The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. (nih.gov)
- A malformation is associated with a disorder of tissue development. (mdwiki.org)
- Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. (beds.ac.uk)
Involves1
- Phocomelia is a congenital condition that involves malformations of human arms and legs which results in a flipper-like appendage. (wikipedia.org)
Renal1
- Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal). (orpha.net)
Skeletal system2
- When all malformations were considered the per-cent of malformations were as follows: 65.7 % uro-genital system, 17.1 % skeletal system, 4.3 % central nervous system, 4.3 % gastrointestinal system, and 8.6 % other systems. (selcukmedj.org)
- Radiographic examination of the skeletal system leads to further confirmation. (radiologykey.com)
Prenatal1
- Neu-Laxova syndrome presents with severe malformations leading to prenatal or neonatal death. (wikipedia.org)
Severe1
- Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. (nih.gov)
Micrognathia1
- Fetuses or newborns with Neu-Laxova syndrome have typical facial characteristics which include proptosis (bulging eyes) with eyelid malformations, nose malformations, round and gaping mouth, micrognathia (small jaw) and low set or malformed ears. (wikipedia.org)
Macrodactyly1
- Sometimes children with macrodactyly also have syndactyly . (childrenshospital.org)
Occurs2
- Syndactyly occurs in approximately 80% of cases and may be partial or complete. (curvesandchaos.com)
- also occurs without the CNS malformations but it results from a different mutation. (arizona.edu)
Organ2
- Still, congenital conditions are often classified in a structural basis, organized when possible by primary organ system affected. (mdwiki.org)
- The brain is the central organ of the nervous system, a system which includes not only the brain but also the sensory organs of the body, the spinal cords and the nerves that connect them all. (fdna.health)
Typically1
- 9 The cranial malformations typically cause strabismus and hypertelorism. (contemporarypediatrics.com)
Central1
- Patients present with an nonbullous erythrodermic form of ichthyosis, with variable involvement of other organs, such as liver, central nervous system, eyes, and ears. (nih.gov)
Incidence2
- The incidence of parental consanguinity was 9.8 % and the ratio of boylgirl was 3.411, among children with malformations. (selcukmedj.org)
- The incidence of congenital malformations in different ethnic groups was 0.85%, 1.45% and 1.70% in native Fars, Turkman and Sistani groups respectively. (who.int)
Liver1
- The LFT140 mutation has widespread effects, impacting the kidney, liver and skeletal systems. (arizona.edu)
Platelets1
- Immune thrombocytopenia happens when the immune system attacks platelets. (akronchildrens.org)
Trimester2
- Use during pregnancy is associated with increased risks of first trimester pregnancy loss and congenital malformations. (nih.gov)
- [16] Malformations often occur in the first trimester. (mdwiki.org)
Defects2
- Other malformations may also be present, such as neural tube defects. (wikipedia.org)
- In conclusion, the Pelnac™ artificial dermal substitute is a minimally invasive, simple, and effective option for one-stage resurfacing of defects in syndactyly release. (bvsalud.org)
Digit1
- HYPOTONIA, digit malformations (e.g. (bvsalud.org)
Tissue1
- While the specific function of KCC3 is unknown, it seems to be critical for the development and maintenance of nerve tissue and for the regulation of axons, which are specialized extensions of neurons that transmit nerve impulses throughout the nervous system. (medlineplus.gov)
Characteristic1
- Syndactyly of all 4 extremities is characteristic of Apert syndrome ( Figure 2 ). (contemporarypediatrics.com)
Fetal2
- Steve Steimel of the Systems Programming and Statistical Resources Branch was responsible for updating the fetal death documentation. (cdc.gov)
- Questions concerning the documentation or general questions concerning the fetal death file should be directed to the Systems and Programming Branch, Division of Vital Statistics, NCHS, 6525 Belcrest Road, Room 840 Hyattsville, Maryland 20782. (cdc.gov)
Bones1
- It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. (actasdermo.org)
Lymphatic1
- The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. (beds.ac.uk)
Pulmonary1
- Vascular malformations, relative immobility, and surgical procedures predispose to deep venous thrombosis, resulting in pulmonary embolism. (symptoma.com)
Hands1
- Syndactyly of both hands and feet. (contemporarypediatrics.com)