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Acrocephalopolysyndactyly

Acrocephalopolysyndactyly Radiology Reference Article

Acrocephalopolysyndactyly definition of

A disorder presenting with severe acrocephaly and distinctive leg defects (hypoplastic tibia, bowed femora, coxa valga), brachydactyly, duplication of the first toe, preaxial polydactyly, and congenital heart disease Acrocephalosyndactyly syndromes are characterized by craniosynostosis, dysmorphic facial features, and severe syndactyly of the hands and feet. Acrocephalosyndactyly syndromes classically have been divided into five subtypes: Acrocephalosyndactyly Type I = Apert syndrome Acrocephalosyndactyly Type II = Apert-Crouzon syndrome (most common A 2-month-old girl with acrocephalopolysyndactyly, type II (Carpenter syndrome) is presented. To our knowledge, this is the 18th reported case of this syndrome and the first outside the North-American and European continents

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes (digits) and the head and facial (craniofacial) area Acrocephalosyndactyly, also called Apert syndrome, congenital malformation of the skeleton affecting the skull and limbs. The disorder most often is hereditary, but it may appear spontaneously. The head appears pointed (acrocephaly) because of premature closing of the cranial sutures between the individual bones that make up the skull A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs J Pediatr . 1971 Jul;79(1):104-9. doi: 10.1016/s0022-3476(71)80066-5

Acrocephalopolysyndactyly definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements Pronunciation of Acrocephalosyndactyly: Learn how to pronounce the word Acrocephalosyndactyly.Definition and meaning were removed to avoid copyright violatio..

Acrocephalopolysyndactyly References in the ICD-10-CM Index to Diseases and Injuries. References in the ICD-10-CM Index to Diseases and Injuries applicable to the clinical term acrocephalopolysyndactyly Acrocephalopolysyndactyly - Q87.0 Congenital malformation syndromes predominantly affecting facial appearanc A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. 2 An extremely rare chondrodysplastic malformation syndrome with the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils and a mild intellectual disability were also noted

Sakati Syndrome - NORD (National Organization for Rare

acrocephalosyndactyly Pediatrics A family of AD conditions due to premature closure of cranial sutures resulting in a peaked head and facial dysmorphia Imaging Skull film Management Surgery to correct skull and facial abnormalities Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severely affected individuals, the abnormal fusion of the skull bones results in a.

Acrocephalosyndactylia - Wikipedi

Looking for acrocephalopolysyndactyly? Find out information about acrocephalopolysyndactyly. Med any combination of signs and symptoms that are indicative of a particular disease or disorder Collins Discovery Encyclopedia, 1st edition ©... Explanation of acrocephalopolysyndactyly ACROCEPHALOPOLYSYNDACTYLY TYPE III. Alternative titles; symbols. ACPS III. ACPS WITH LEG HYPOPLASIA. SAKATI-NYHAN SYNDROME. SNOMEDCT: 403768004; DO: 0060359; TEXT. This designation may be appropriate for the malformation syndrome described by Sakati et al. (1971) in a single male. The calvaria was large and the face disproportionately small

Synonyms for acrocephalopolysyndactyly in Free Thesaurus. Antonyms for acrocephalopolysyndactyly. 7 synonyms for syndrome: condition, complaint, illness, symptoms, disorder, ailment, affliction. What are synonyms for acrocephalopolysyndactyly Read this chapter of Syndromes: Rapid Recognition and Perioperative Implications, 2e online now, exclusively on AccessPediatrics. AccessPediatrics is a subscription-based resource from McGraw Hill that features trusted medical content from the best minds in medicine Pfeiffer syndrome (acrocephalosyndactyly type V) is generally accepted to be the same condition as Noack syndrome (acrocephalopolysyndactyly type I). It is a rare genetic disorder characterized by craniofacial abnormalities, digital malformations, and/or additional physical abnormalities Acrocephalopolysyndactyly, Type 2. Carpenter Syndrome is described as a unique set of similar physical characteristics which were first noticed in the early 1900's by British physician, George Carpenter. He described two sisters and a brother with acrocephaly (cone shaped heads), peculiar facies, brachydactyly (abnormally short fingers.

Acrocephalopolysyndactyly Type III: Sakati-Nyhan-Tisdale

Carpenter Syndrome: Acrocephalopolysyndactyly Type II

Acrocephalosyndactyly Syndromes Syndromes: Rapid

  1. Syndactyly is the most common congenital malformation of the limbs and is characterized by abnormal connections of digits of the hand. Diagnosis is made clinically. Treatment is usually digit release performed at ~ 1 year of age. Epidemiology. Incidence
  2. Syndactyly is anatomically subdivided into simple incomplete (Fig. 1a) and complete (Fig. 1b) forms where only the soft tissues are fused, complex forms with adjacent bone fusion like acrosyndactyly (Fig. 1c), and complicated forms where the anatomy is completely subverted (Fig. 1d).Temtamy and McKusick in 1978 proposed a clinical classification of syndactyly, based on the affected digits
  3. The patient had a peculiar facies due to lateral displacement of 1 1 2 Temtamy r5 / (il CLUB FOOT I~) EPILEPSY + DEAD -- EXAMINED ,/~,O PROPOSITA, ACROCEPHALOPOLYSYNDACTYLY Fig. I. Pedigree of the patient with acrocephalo- polysyndactyly or Carpenter's syndrome. both medial canthi associated with epicanthic folds
  4. Value Set Name: Microcephaly Causes Value Set OID: 2.16.840.1.114222.4.11.7469: Value Set Description: Causes of Microcephaly. There is a possible association of Microcephaly with Zika virus infection during pregnancy
  5. Acrocephalopolysyndactyly (ACPS) syndrome is comprised of a rare group of disorders collectively characterized by: calvarial anomalies: e.g. craniosynostoses digital anomalies: syndactyly and polydactyly While there can be some overlap in features, they can be primarily classified into the fo..

A variety of ocular anomalies have been reported in Carpenter syndrome with none being constant or characteristic. The inner canthi are often spaced widely apart and many have epicanthal folds and a flat nasal bridge. Other reported abnormalities are nystagmus, foveal hypoplasia, corneal malformations including microcornea, corneal opacity, and. Acrocephalopolysyndactyly, pentalogy of Fallot, and hypoacusis in a patient with a de novo reciprocal translocation involving the short arm of chromosome 1 and the long arm of chromosome 18: 46,XX,t(1;18)(p31;q11 Acrocephalopolysyndactyly type II; Carpenter Syndrome belongs to a group of genetic disorders known as Acrocephalopolysyndactyly, Type II (pronounced: AK-roh-SEF-ah-loh-PAH-lee-sin-DAK-tuh-lee) or ACPS disorders. All forms of ACPS are characterized by webbing or fusion (syndactyly) of certain fingers and/or toes (digits), more than the expected. A number of acrocephalopolysyndactyly and acrocephalosyndactyly syndromes have been defined, the main features of which are outline in Table 1. 1 - 3 The classical acrocephalopolysyndactyly syndrome is that described by Carpenter in two sisters with acrocephaly, syndactyly of the hands, and preaxial polysyndactyly of the toes. 4 Temtamy.

Acrocephalopolysyndactyly type II—Carpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summit syndromes. Donald M. Cohen D.M.D., M.S. Corresponding Author. University of Nebraska Medical Center College of Dentistry, Lincoln, NE Carpenter's syndrome: Acrocephalopolysyndactyly. An autosomal recessive syndrome. A patient representing a new syndrome characterized by the association of acrocephaly, peculiar facies, brachysyndactyly of the fingers, preaxial polydactyly and syndactyly of the toes, hypogenitalism, obesity, and mental retardation is described Acrocephalopolysyndactyly Type II. Acrochordon. Acrylic Intraocular Lens. Acrylic IOL. Actinic (Solar) Keratosis. Actinic Cheilitis (AK on the Lips) Actinic Keratosis. Acular. Acular LS. Acular PF. Acute Angle Closure. Acute Angle Closure in Dislocated or Intumescent Lens. Over 10 million scientific documents at your fingertips This Present On Admission (POA) indicator is recorded on CMS form 4010A. | ICD-10 from 2011 - 2016. Q87.0 is a billable ICD code used to specify a diagnosis of congenital malformation syndromes predominantly affecting facial appearance. A 'billable code' is detailed enough to be used to specify a medical diagnosis

Acrocephalopolysyndactyly, Type II (Carpenter Syndrome

  1. Acrocephalopolysyndactyly (Acroencephalopolysyndactyly Syndrome): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis
  2. Acrocephalosyndactyly definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now
  3. (1992). Carpenter's syndrome (acrocephalopolysyndactyly type II) with normal intelligence. British Journal of Neurosurgery: Vol. 6, No. 3, pp. 243-247

Acrocephalopolysyndactyly Type II Preferred Term. Term UI T824226 Date 06/20/2012 Abbreviation: QA: LexicalTag NON ThesaurusID OMIM (2013) Carpenter Syndrome Preferred Term. Term UI T802376 Date 11/15/2011 Abbreviation: QA: LexicalTag NON ThesaurusID OMIM (2013) ACPS II Preferred Term. Term UI T824227 Date 06/20/201 A type 1 excludes note is a pure excludes. It means not coded here. A type 1 excludes note indicates that the code excluded should never be used at the same time as Q04.A type 1 excludes note is for used for when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition - Acrocephalopolysyndactyly type 4 - Goodman syndrome Hide descriptions. Concept ID: 733425005 Read Codes: ICD-10 Codes: Q870 Powered by X-Lab. This tool allows you to search SNOMED CT and is designed for educational use only. The full SNOMED CT. Valid for Submission. Q87.0 is a billable diagnosis code used to specify a medical diagnosis of congenital malformation syndromes predominantly affecting facial appearance. The code Q87.0 is valid during the fiscal year 2021 from October 01, 2020 through September 30, 2021 for the submission of HIPAA-covered transactions

What does acrocephalopolysyndactyly mean? Acrocephalosyndactylia. (noun) Words near acrocephalopolysyndactyly in the Dictionar Disease: Acrocephalopolysyndactyly, type 2 (ACPS 2) Description of Acrocephalopolysyndactyly, type 2 (ACPS 2) A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders Posts about acrocephalopolysyndactyly written by primumn0nn0cere. Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly

Acrocephalopolysyndactyly, pentalogy of Fallot, and hypoacusis in a patient with a de novo reciprocal translocation involving the short arm of chromosome 1 and the long arm of chromosome 18: 46,XX,t(1;18)(p31;q11) A type 1 excludes note is a pure excludes. It means not coded here. A type 1 excludes note indicates that the code excluded should never be used at the same time as Q18.A type 1 excludes note is for used for when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition Presentation. The syndrome was first reported in an eight-year-old boy, but very few cases have been reported since then. The syndrome is detected by abnormalities noted at birth involving the head, limbs, heart, ears, and skin. It is characterized by premature closure of the fibrous joints between certain bones of the skull in a process known as craniosynostosis Search 2021 ICD-10 codes. Lookup any ICD-10 diagnosis and procedure codes

Greig Cephalopolysyndactyly Syndrome - NORD (National

Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA. Am J Med Genet, 28(2):311-324, 01 Oct 1987 Cited by 24 articles | PMID: 3322002. Revie Create codetable from scratch Show conversion to ICD-9-CM Contact. Acrocephalopolysyndactyly Q87.0Q87 Definition from Wiktionary, the free dictionary. Jump to navigation Jump to search. English [] Noun []. acrocephalopolysyndactyly. acrocephalosyndactyli Qualifying Diagnosis Codes have the following notation: < Q >. Q87.0 <Q> Congenital malformation syndromes predominantly affecting facial appearance. Acrocephalopolysyndactyly. Acrocephalosyndactyly [Apert] Cryptophthalmos syndrome. Cyclopia. Goldenhar syndrome. Moebius syndrome. Oro-facial-digital syndrome

Acrocephalosyndactyly congenital disorder Britannic

Acrocephalopolysyndactyly type IV: A new genetic syndrome in 3 sibs * Acrocephalopolysyndactyly type IV: A new genetic syndrome in 3 sibs * G oodman , R. M.; S ternberg , M.; S hem -T ov , Y.; K atznelson , M. B at -M iriam ; H ertz , M.; R otem , Y. 1979-03-01 00:00:00 Departments of Human Genetics, Pediatrics, Cardiology and Radiology of the Chaim Sheba Medical Center, Tel Hashomer and the. Acrocephalopolysyndactyly Acrocephalosyndactyly [Apert] Cryptophthalmos syndrome Cyclopia Goldenhar syndrome Moebius syndrome Oro-facial-digital syndrome Robin syndrom The acrocephalopolysyndactyly syndromes can show autosomal dominant or autosomal recessive inheritance. We present a patient withacrocephalopolysyndactyly withotheras-sociatedanomaliessuchas pentalogyofFallot, hypoacusis,psychomotorretardation, andade novo, apparently balanced, reciprocal translo-cation involving chromosomes 1 and 18.

A new syndrome with acrocephalopolysyndactyly, cardiac

[Acrocephalopolysyndactyly Type III; Sakati-Nyhan syndrome; OMIM 101120] Woodhouse-Sakati syndrome (1983) Woodhouse and Sakati ( 1983 ) reported a total of 7 Saudi Arabian individuals from 2 consanguineous families with a combination of hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness A related term, acrocephalopolysyndactyly (ACPS), refers to the inclusion of polydactyly to the presentation. It also has multiple types: type 1 - Noack syndrome. Now classified with Pfeiffer syndrome. type 2 - Carpenter syndrome; type 3 - Sakati-Nyhan-Tisdale syndrome; type 4 - Goodman syndrome ICD-10-CM Code for Congenital malformation syndromes predominantly affecting facial appearance Q87.0 ICD-10 code Q87.0 for Congenital malformation syndromes predominantly affecting facial appearance is a medical classification as listed by WHO under the range - Congenital malformations, deformations and chromosomal abnormalities acrocephalosyndactylism. [ ‚ak·rə‚sef·ə·lō‚sin′dak·tə‚liz·əm] (medicine) A congenital malformation consisting of an enlarged, pointed skull and defective separation of fingers and toes. Also known as Apert's syndrome Glossaries for translators working in Spanish, French, Japanese, Italian, etc. Glossary translations

Acrocephalopolysyndactyly Definition of

Video: Acrocephalopolysyndactyly type III (Concept Id: C1275079

Carpenter Syndrome | Hereditary Ocular Diseases

Polydactyly is a condition in which a person has more than 5 fingers per hand or 5 toes per foot. Polydactyly is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, polydactyly can occur in association with other. Acrocephalopolysyndactyly Acrocephalosyndactyly [Apert] Cryptophthalmos syndrome Cyclopia Goldenhar syndrome Moebius syndrome Oro-facial-digital syndrome Robin syndrome Whistling face P11.3=Birth injury to facial nerve. Congenital Facial Palsy Decompression surgery Dr. Francisco Schwartz-Fernandes, MD is a Orthopedic Hand Surgery Specialist in Lady Lake, FL and has over 26 years of experience in the medical field. He graduated from Faculdade De Medicina De Marilla medical school in 1995. He is affiliated with AdventHealth Wesley Chapel. He is accepting new patients and has indicated that he accepts telehealth appointments Acrocephalopolysyndactyly (Carpenter type) Fanconi anemia. Holt-Oram syndrome. See Appendix for characteristics of syndromes. Ulnar polydactyly. An extra little finger is the most common type of polydactyly (Fig. 8.2). According to the classification of Stelling and Turek there are three types: type A presents with a rudimentary little finger. In infants with Carpenter's syndrome (acrocephalopolysyndactyly), the facial appearance is similar to that of infants with Apert's syndrome; in addition, there is polysyn-dactyly. This infant with Carpenter's syndrome shows the high steep protruding forehead , the flat midface , the small pinched nose, and the downward slanting of the palpebral.

^ Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type IV - 201020 ^ Goodman RM, Sternberg M, Shem-Tov Y, Katznelson MB, Hertz M, Rotem Y (March 1979). Acrocephalopolysyndactyly type IV: a new genetic syndrome in 3 sibs Synonyms and Keywords: Acrocephalopolysyndactyly type 2, Goodman syndrome, Summitt syndrome, Acrocephalopolysyndactyly type 4 Overview. Carpenter syndrome is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly. Historical Perspective. It was first characterized in 1909 acrocephalopolysyndactyly translation french, English - French dictionary, meaning, see also 'acre',acrobat',across',acceptably', example of use, definition.

How To Say Acrocephalosyndactyly - YouTub

Search Eligible Codes. To search for medically qualifying diagnoses enter the name of the condition or diagnosis code in the search box below and hit search. An auto-lookup feature will help you narrow your search results Acrocephalopolysyndactyly is also called: (Acro-cephalo-poly-syn-dactyl-y say that 3 times fast) Carpenter's Syndrome. A benign tumor/ malformation of blood vessels in the cord. hemangioma of the cord. Hemangioma of the cord arises from the ___ cells of the vessels of the umbilical cor 16 Malformations and Deformities. Anomalies of the skeleton and soft tissues of the hand can be caused by congenital malformations or deformities acquired during growth. The most important malformations are associated with syndactyly, brachydactyly, oligodactyly, polydactyly, aphalangia, constriction rings, hypoplasia/aplasia of the thumb. Polyhydramnios and small fetal stomach: clinical outcome and pathologic findings. Marc J. Lacrampe, MD*, Philippe Jeanty, MD, PhD Synonyms: None. Prevalence: Rare. Definition: Polyhydramnios asso­ciated with a small stomach. Etiology: Impaired swallowing. Pathogenesis: Anomaly of the mechanics, the patency, the neural or muscular control of swallowing and deglutition

Saethre-Chotzen Syndrome | Children&#39;s Hospital of Philadelphia

Human Phenotype Ontology, a standardized vocabulary of phenotypic abnormalities encountered in human disease. With unmatched depth it enables clinicians to record and analyse data with extremely accurate computer interpretable ontology terms. Developed by The Monarch Initiative ACPS2 ACPS II Acrocephalopolysyndactyly 2 Acrocephalopolysyndactyly type II Carpenter syndrome. Keywords › Craniosynostosis. Related websites. MIM i › phenotype [ MIM:201000 ] MedGen› MedGen:C0796281; MedGen› MedGen:C1275078; MeSH› MeSH:D000168. Acrocephalopolysyndactyly; Acrocephalopolysyndactyly ICD-10-CM Alphabetical Index. The ICD-10-CM Alphabetical Index is designed to allow medical coders to look up various medical terms and connect them with the appropriate ICD codes. There are 0 terms under the parent term 'Acrocephalopolysyndactyly' in the ICD-10-CM Alphabetical Index

These are the antenatal scans demonstrating the sameCongenital Craniofacial Anomalies and Their Management

Acrocephalopolysyndactyly - ICD-10-CM Index to Diseases

acrocephalopolysyndactyly syndrome, also has a different underlying genetic mechanism. Early management by a multidisciplinary team of neurosurgeons, plastic surgeons, ophthalmolo-FGFR gene and the , .. This Appendix contains brief descriptions of many common syndromes and their associated anesthetic considerations for safe pediatric anesthesia practice. Also described are some quite rare syndromes that have important anesthesia considerations. Many of these share features that make precise identification difficult, and the reader should consider all the information given in the description SDP of the thumb may be associated with acrocephalopolysyndactyly, Apert syndrome, Christian syndrome, fibrodysplasia ossificans progressiva, hand-foot-genital syndrome, otopalatodigital syndrome type 1, pseudohypoparathyroidism, pseudopseudohypoparathyroidism or other congenital diseases Disclaimer. All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only Carpenter syndrome - type II acrocephalopolysyndactyly is an autosomal recessive genetic disorder in which mutations occur in RAB23, a hydrolysis involved in transmembrane regulation . Carpenter syndrome associates, besides partial syndactyly and polydactyly, with auricular, cardiac and genital abnormalities

Curly Toe Syndrome - Musculoskeletal Disorders - My

Acrocephalopolysyndactyly - definition of

Hi. I have a list of very long words of which I would like to abbreviate. Therefore is there a formula I could use to copy the first 4 characters of each word into the next cell: For example: Cell A1 = Abdominolipectomy. Cell A2 = Acrocephalopolysyndactyly. Could we get in cell B1 = Abdo and B2 = Acro. Help is most appriciated Dr. Debra Moses, DO is a Family Medicine Specialist in Atascocita, TX. She is affiliated with medical facilities such as HCA Houston Healthcare Kingwood and Henry Ford Macomb Hospital. She is accepting new patients and has indicated that she accepts telehealth appointments. Be sure to call ahead with Dr. Moses to book an appointment Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS

Lung sequestration, extralobar, intrathoracic, video clippostnatal radiograms

Carpenter syndrome (Acrocephalopolysyndactyly type 2, OMIM 201000) is a rarely seen autosomal recessive disorder. In addition to abnormalities such as acrocephaly, craniosynostosis, facial asymmetry, polydactyly and syndactyly, obesity, hypogonadism, mental retardation, and corneal opacity, it may frequently be accompanied by congenital heart. FPnotebook.com is a rapid access, point-of-care medical reference for primary care and emergency clinicians. Started in 1995, this collection now contains 6963 interlinked topic pages divided into a tree of 31 specialty books and 737 chapters What does acrocephaly mean? Oxycephaly. (noun) From acro-+‎ -cephaly, from Ancient Greek ἄκρος (akros, highest, on the extremity) + κεφαλή. Acrocephalopolysyndactyly Acrocephalosyndactyly [Apert] Cryptophthalmos syndrome Cyclopia Goldenhar syndrome Moebius syndrome Oro-facial-digital syndrome Robin syndrome Whistling face: Q87.1: Congenital malformation syndromes predominantly associated with short stature: Aarskog syndrome Cockayne syndrom Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II) Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II) Batra, Yatindra Kumar; Rajeev, Subramanyam; Nishtala, Srinivas; Grover, Gogia 2008-12-01 00:00:00 S ir— Carpenter syndrome is characterized by craniosynostosis, polysyndactyly, obesity, and cardiac defects ( 1 ) Category:Long English words. This category contains English words that are 25 letters long or more