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Cooks Syndrome

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Presentation

  • Clinical description Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs.[orpha.net]
  • We present a case and discussion of a patient with congenital anonychia, absent distal phalanges, and rudimentary hypoplastic middle phalanges and brachydactyly, consistent with Cooks syndrome.[ncbi.nlm.nih.gov]
  • Hence this could be considered to be an incomplete presentation or “ forme fruste” of Cooks syndrome.[oatext.com]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
Multiple Congenital Anomalies
  • Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991).[doi.org]
Nightmare
  • Now, her boss had a boss and that is when the nightmare began. Her directions were not clear anymore. Her boss told her to do one thing while her boss’s boss told her to do another.[sailemagazine.com]
Brachydactyly
  • Hamm, Congenital brachydactyly and nail hypoplasia: clue to bone‐dependent nail formation, British Journal of Dermatology, 152, 6, (1339-1342), (2005).[doi.org]
  • A sibling pair with brachydactyly type B born to a normal non-consanguineous couple are described and the severity of their condition discussed.[ncbi.nlm.nih.gov]
Small Head
  • This one pours a dark slightly hazy reddish color, with a small head, and lots of lacing. Smells a little metallic unfortunately, with some spicy rye bread, and a little bit of weak pine.[beeradvocate.com]
Hypoplastic Nails
  • Chapter First Online: 06 December 2014 Abstract Cooks syndrome is a brachydactyly with absent or hypoplastic nails affecting all digits. Absent flexion creases can be noted in the digits.[link.springer.com]
  • In autosomal dominant brachydactyly with absence of middle phalanges and hypoplastic nails, the changes in the middle phalanges are distinctive.[ijpd.in]
Absent Nails
  • A family is reported with nail dysplasia and/or absent nails, long and broad finger-like thumbs, camptodactyly and absent fingers. Radiological studies revealed hypoplasia of metacarpals, metatarsals and distal phalanges.[scinapse.io]
  • Lynch SA, Gardner-Medwin D, Burn J, Bushby KM (1997) Absent nails, Kinesogenic choreoathetosis, epilepsy and developmental delay - a new autosomal dominant disorder? Clinical Dysmorphology 6: 133.[oatext.com]
Pruritus
  • Case report A 12 year old girl, born of a non-consanguineous marriage and full term uneventful pregnancy, presented with generalized pruritus of 2 weeks duration.[oatext.com]
Normal Hair
  • It is characterized by congenital onychodystrophy and anonychia along with fifth finger brachydactyly, digitalization of the thumb, absent or hypoplastic distal phalanges of hands and feet with normal hair, teeth and sweat glands.[ijpd.in]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • […] photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment[books.google.com]
  • In between, the hospitalist wouldn’t necessarily be getting regular updates on what’s being done, what new medications are being given, and how the treatment strategy may have changed.[suneeldhand.com]
  • Photograph: Navesh Chitrakar/Reuters Manjura poses for a photograph before undergoing laser hair removal treatment Photograph: Navesh Chitrakar/Reuters Manjura rests on a hospital bed as a nurse prepares her for laser hair removal treatment at Dhulikhel[theguardian.com]

Prognosis

  • To date, only 20 cases have been described in world literature. [5] Hence, it is very important for the dermatologist to know about anonychia and counsel the parents regarding the prognosis of this rare entity. References 1. Irvine AD, Mellerio JE.[ijpd.in]
  • Prostate Cancer Prostate cancer is predominantly an indolent cancer with a variable and unpredictable prognosis. Therefore, the main goals of Dr.[dceg.cancer.gov]
  • Mortality/Morbidity Prognosis is generally good, but it depends on the severity of the cardiac malformations. Morbidity/mortality Structural lesions are present at birth. Prognosis depends on the severity of the cardiac lesions.[emedicine.medscape.com]
  • Prognosis - Brachydactyly absence of distal phalanges Not supplied. Treatment - Brachydactyly absence of distal phalanges Not supplied. Resources - Brachydactyly absence of distal phalanges Not supplied.[checkorphan.org]
  • The moment that doctor discovered Marsh could communicate through blinking was one of profound relief for Marsh and his family – although his prognosis remained critical.[theguardian.com]

Etiology

  • Etiology The exact etiology of Cooks syndrome is still unknown but microduplications on chromosome 17q24.3 and involvement of a non-coding element of the SOX9 gene (17q24.3) have recently been associated in some patients with Cooks syndrome.[orpha.net]
  • The flat rectangular surface of the future nail bed on the dorsal tips is first demarcated by folds visible at 8-10 weeks of IUL. [4] Though the exact etiology of anonychia is not known, molecular genetics reveals microduplications on chromosome 17q24.3[ijpd.in]
  • Cook’s prostate cancer research program are to study clinically-relevant disease—defined as aggressive, progressive, and fatal forms—to elucidate etiology and discover prognostic biomarkers. The specific aims of Dr.[dceg.cancer.gov]
  • Each technique should be tailored not only to the anatomy and etiology of each process but also to the experience and knowledge of the operator. The surgeon should select the most appropriate method and technology for each patient.[laparoscopy.blogs.com]

Epidemiology

  • Summary Epidemiology To date, less than 20 individuals have been described in the world literature.[orpha.net]
  • Biography Research Interests Scientific Publications Metabolic Epidemiology Branch Biography Dr. Michael B.[dceg.cancer.gov]
  • Epidemiology Frequency United States Holt-Oram syndrome is the most common form of heart-hand syndrome, with prevalence estimated at 0.95 cases per 100,000 total births. Approximately 85% of cases are attributed to new mutations.[emedicine.medscape.com]
  • Several large epidemiologic cohort studies (such as Framingham Offspring Study, Botnia Study, Kuopio Ischemic Heart Disease Study, NHANES II Mortality Study, San Antonio Heart Study and DECODE Study) have documented that metabolic syndrome is associated[dmsjournal.biomedcentral.com]
  • Read about the epidemiology and natural history of NAFLD. The top three leading causes of death in patients with… March 30th, 2016 Dr.[cookmedical.com]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiologic sequelae are a direct result of malformations of the heart and upper limbs.[emedicine.medscape.com]
  • […] retained products of conception. 4-5 The incidence of uterine synechiae has apparently risen in the past two decades, likely as a result of improved diagnosis or to more uterine surgery (including pregnancy-related curettage), or both. 4 ETIOLOGY AND PATHOPHYSIOLOGY[laparoscopy.blogs.com]
  • Epidemiology and aetiology Data regarding pathophysiology of AS and IUA are still limited in literature.[rbej.biomedcentral.com]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • The use of IUD in order to prevent adhesion recurrence was one of the first attempts to be documented in literature [ 8 ].[rbej.biomedcentral.com]
  • The neo-TAD that was not associated with a phenotype was insulated from the neighboring genes, preventing the duplicated regions from interacting with SOX9 , KCNJ2 , and KCNJ16 .[cancerdiscovery.aacrjournals.org]
  • Both of these are sub-optimal in preventing intrauterine adhesions.[laparoscopy.blogs.com]
  • When these infections are preventable, we want EVERYONE to know.[cookmedical.com]

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