Clinical description Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. [orpha.net]

Hence this could be considered to be an incomplete presentation or “forme fruste” of Cooks syndrome. [oatext.com]

Cutaneous syndactyly or symphalangism may be present. [accesspediatrics.mhmedical.com]

• Epilepsy

  Has progress been made in progressive myoclonic epilepsy (EPM1)?. Epilepsy Curr 2015, 15(5):253-254. Fournier-Goodnight A, Gabriel M, Perry MS. Preliminary neurocognitive outcomes in Jeavons Syndrome. Epilepsy Behav 2015, 52(Pt A):260-263. [cookchildrens.org]

  Cook Children’s Medical Center Cook Children’s Medical Center in Fort Worth is part of an international drug trial to test the efficacy of a marijuana compound when used to treat epilepsy. [txcann.com]

  "Research to discover cures for epilepsy is a primary focus of the Cook Children’s Comprehensive Epilepsy program." [checkupnewsroom.com]

  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]

• 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]

  What has changed with the social media revolution is that negative reactions or PR nightmares can arise at any moment. No longer are advertising campaigns restricted based on running dates or times. [claymanmarketingcommunications.wordpress.com]

• Lymphedema

  Polydactyly of Feet Ectodermal Dysplasia with Adrenal Cyst Ectodermal Dysplasia with Mental Retardation and Syndactyly Ectodermal Dysplasia with Natal Teeth, Turnpenny Type Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, and Lymphedema [nfed.org]

  Syndromic form of anonychia presents with ectodermal dysplasia, skeletal or neurological malformations such as microcephaly, brachydactyly (Cooks syndrome), abnormal dentition, lymphedema, gingival fibromatosis (Zimmermannn–Laband syndrome), deafness, [actasdermo.org]

• Dysostosis

  Photosensitive Trichothiodystrophy 3, Photosensitive Trichothiodystrophy 4, Nonphotosensitive Trichothiodystrophy 5, Nonphotosensitive Ulnar-Mammary Syndrome Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly Weyers Acrofacial Dysostosis [nfed.org]

• Sweating

  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]

  Glean all essential, up-to-date, need-to-know information with new chapters on Papulosquamous and Lichenoid Disorders, Acneiform and Sweat-gland disorders and two individual chapters on Vascular Malformations and Vascular Tumors. [books.google.com]

  It is characterized by congenital onychodystrophy and anonychia along with fifth finger brachydactyly, digitalization of the thumb, absent/hypoplastic distal phalanges of hands and feet with normal hair, teeth and sweat glands.[1] Cook's syndrome is listed [journals.lww.com]

  In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]

• 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]

  High palate Elevated palate Increased palatal height [ more ] 0000218 Nail dysplasia Atypical nail growth 0002164 Nail dystrophy Poor nail formation 0008404 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent [rarediseases.info.nih.gov]

  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]

• Alopecia

  There is a condition called alopecia areata that affects an estimated 4.5 million people in the United States. In this condition there is hair loss mainly of the scalp and beard. [metrowestdailynews.com]

  2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]

  Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring and alopecia, [ncbi.nlm.nih.gov]

• Erythema

  Erythema multiforme. Lyell disease. Raynaud phenomenon. Accidental injuries. Surgery. Burns. Freezing. Chemical damage. [medigoo.com]

  Odontoonychodermal dysplasia MedGen UID: 208666 • Concept ID: C0796093 • Disease or Syndrome A form of ectodermal dysplasia with hyperhidrosis, hyperkeratosis palmaris et plantaris, nail dystrophy, dry and sparse hair, facial erythema, peg-shaped incisors [ncbi.nlm.nih.gov]

• Short Fifth Finger

  5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short philtrum 0000322 Shortening of all distal phalanges of the fingers Shortening of all outermost bones of the fingers 0006118 [rarediseases.info.nih.gov]

• Seizure

  It began with her daughter going four days with only one seizure. Then she went one full week seizure-free. [checkupnewsroom.com]

  Seizures Many children with Sturge-Weber syndrome have seizures. These happen because of blood vessel problems in the brain. Doctors usually treat seizures with medicines. If medicines don't help, some children have surgery to help stop seizures. [kidshealth.org]

  Coregistration of multimodal imaging is associated with favorable 2 year seizure outcome after pediatric epilepsy surgery. Epileptic Disorders 2017, 19(1): 40-8. Patel A, Perry MS. Febrile Seizures. [cookchildrens.org]

  It won’t get you high, like the THC compound will, but it has shown strong results in helping to treat seizure activity. It is considered by the federal government to be a Schedule I drug however. [txcann.com]

  Cranioectodermal Dysplasia 1 Deafness with Anhidrotic Ectodermal Dysplasia Deafness, Conductive, with Ptosis and Skeletal Anomalies Deafness, Congenital, and Onychodystrophy, Autosomal Dominant Deafness, Onychodstrophy, Osteodystrophy, Mental Retardation, and Seizures [nfed.org]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

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]

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]

The treatment of severe adhesions remains a challenge. [laparoscopy.blogs.com]

Management and treatment of Asherman syndrome The treatment strategy of AS could be summarized in four main steps: 1. Treatment (Dilatation and curettage, hysteroscopy, hysterotomy) 2. [rbej.biomedcentral.com]

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]

PMID: 22329539 Prognosis Poerink JG, Kon M, van Minnen LP J Plast Reconstr Aesthet Surg 2011 Jun;64(6):822-6. Epub 2010 Oct 6 doi: 10.1016/j.bjps.2010.08.043. [ncbi.nlm.nih.gov]

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]

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]

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]

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]

Epidemiology To date, less than 20 individuals have been described in the world literature. Clinical description Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. [rarediseases.info.nih.gov]

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]

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]

Both of these are sub-optimal in preventing intrauterine adhesions. [laparoscopy.blogs.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]

When these infections are preventable, we want EVERYONE to know. [cookmedical.com]