Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1487Disease definitionCooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting [malacards.org]

[…] distinguished from other nail disorders such as autosomal dominant anonychia-onychodystrophy: anonychia-onychodystrophy is not associated with bone changes and the nail hypoplasia is progressive from the fifth digit to the thumb, with anonychia often present [checkorphan.org]

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. [augusta.pure.elsevier.com]

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]

• Swelling

  There was bulbous swelling at the tips of both the great toes [Figure 2]. No other skeletal anomaly was detected. Sexual development was normal. No facial anomaly was detected. Hair and mucous membrane did not reveal any abnormality. [journals.lww.com]

  Figure 2: Anonychia and bulbous swelling of right toe nails with a small bud of nail seen on 3rd toe Click here to view Figure 4: Radiograph of right hand showing absence of distal phalanges and triphalangism of thumb. [ijpd.in]

  Rister said the patients with MIS-C arrived at Cook Children’s following exposure to COVID-19 and had symptoms including fever, abdominal pain and outward evidence of inflammation including diffuse rashes, conjunctivitis and swelling. [checkupnewsroom.com]

  It presents as a dull-red swelling of the nail fold, that is indurated and raised, with loss of the cuticle margin. [handresearch.com]

• Nail Abnormality

  More than 800 color photographs illustrate the full spectrum of hair, skin, and nail abnormalities. Updated to reflect current classification of inherited skin disorders and the molecular underpinnings of these conditions " [books.google.es]

  Aging changes in hair and nails Fungal nail infection Ingrown toenail Nail abnormalities Nail injuries Paronychia Splinter hemorrhages [ Read More ] [icdlist.com]

  Keywords: Nail abnormalities, nail changes, oral lesions How to cite this article: Baby TK, Prasad G U, Sunil S. Nail changes in oral lesions: A clue to diagnosis. [tjmrjournal.org]

  Nail dysplasia MedGen UID: 331737 •Concept ID: C1834405 • Congenital Abnormality The presence of developmental dysplasia of the nail. [ncbi.nlm.nih.gov]

  Fingernail Aka: Toenail, Onychogryposis, Onychomadesis, Onychoschizia, Onychotillomania, Nail Growth, Hyponychium, Eponychium, Cuticle, Anonychia, Onychodystrophy See Also Nail Abnormality Nail-Related Growths Anatomy Images Germinal matrix Root of the [66.199.228.237]

• Weakness

  Signs and side effects shift contingent upon the creature causing the disease, yet regularly incorporate fever and weakness. Gentle diseases may react to rest and home cures, while some life-undermining contaminations may require hospitalization. [globaldermatology.conferenceseries.com]

  *chicken-pox *water-pox *varicella 【水頭症】*hydrocephaly *hydrocephalus 【水滑液嚢腫】*hygroma (＝ヒグローマ) 【水筋腫】*hydromyoma 【水銀性口内炎】*mercurial stomatitis 【水腎症】*hydronephrosis *nephrohydrosis 【水腎盂症】*hydropelvis 【水疱性類天疱瘡】*bullous pemphigoid 【水瘤】*hydrocele (衰) 【衰弱】*weakness [medo.jp]

• Chronic Fatigue Syndrome

  Constipation, depression, urinary tract infections (UTIs), heart conditions, kidney and bladder stones, mental and physical tiredness (fatigue), chronic fatigue syndrome (CFS), fluid retention, headaches, low blood pressure (hypotension), weight loss, [waittfoundation.org]

• Cyanosis

  】*monomyositis 【単麻痺】*monoplegia (炭) 【炭疽】*anthrax 【炭粉沈着症】*anthracosis (短) 【短顎[症]】*brachygnathia 【短頚症】*brevicollis 【短頭症】*brachycephaly/*brachycephalia/*brachycephalism (蛋) 【蛋白蓄積症】【蛋白症】*proteinosis 【蛋白尿症】*proteinuria *[＝アルブミン尿症] albuminuria (チ) 【チアノーゼ】*cyanosis [medo.jp]

• Cardialgia

  心身障害】*psychosomatic disorder 【心臓炎】*carditis ^＝心筋炎 【心臓下垂症】*cardioptosis 【心臓恐怖症】*cardiophobia 【心臓疾患】【心臓病】【心疾患】*heart disease *cardiac disease *cardiopathy 【心臓心膜炎】*cardiopericarditis 【心臓性肝硬変】【心性肝硬変】*cardiac cirrhosis *cardiocirrhosis 【心臓痛】*cardiac pain *cardialgia [medo.jp]

• Xerostomia

  […] subdural hemorrhage 【硬膜下膿瘍】*subdural abscess 【硬膜外血腫】*epidural hematoma 【硬膜外膿瘍】*epidural abscess (口) 【口蓋炎】*palatitis 【口蓋垂炎】*uvulitis *staphylitis 【口蓋垂裂】*cleft uvula *uvula bifida[L] 【口蓋乳頭嚢胞】*cyst of papilla palatina 【口蓋裂】*cleft palate *palatoschisis 【口腔乾燥症】*xerostomia [medo.jp]

• Bruxism

  葡萄球菌血症】*staphylococcemia 【ブドウ球菌性肺炎=葡萄球菌性肺炎】*staphylococcal pneumonia 【ブドウ膜炎=葡萄膜炎】*uveitis 【ブドウ膜腫=葡萄膜腫】【ブドウ腫=葡萄腫】*staphyloma 【ブドウ膜耳下腺炎=葡萄膜耳下腺炎】*uveoparotitis 【ブドウ膜耳下腺性多発性神経炎=葡萄膜耳下腺性多発性神経炎】*uveoparotitic polyneuritis 【ブドウ膜耳下腺熱=葡萄膜耳下腺熱】*uveoparotid 【ブラキシズム】*bruxism [medo.jp]

• Osteoporosis

  […] frontonasal dysostosis Acromesomelic dysplasia Acromesomelic dysplasia Campailla Martinelli type Acromesomelic dysplasia Hunter Thompson type Acromesomelic dysplasia Maroteaux type Acromicric dysplasia Acroosteolysis dominant type Acroosteolysis with osteoporosis [personalizedcause.com]

  X-ray digital radiography showed a complete absence of 6 terminal phalanges, diffuse osteoporosis of phalanges, metacarpi, carpi, ulnae and radii, with prominent swelling of soft tissues ( Fig. S1g ). [medicaljournals.se]

  Acromesomelic dysplasia Campailla Martinelli type Acromesomelic dysplasia Hunter Thompson type Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia Acromicric dysplasia Acroosteolysis dominant type Acroosteolysis neurogenic Acroosteolysis osteoporosis [statemaster.com]

  Isaia syndrome Absent patella Acroosteolysis dominant type Adrenal hyperplasia Alopecia anosmia deafness hypogonadism syndrome Absent T lymphocytes Acroosteolysis neurogenic Adrenal hyperplasia 2 Alopecia areata Abuse dwarfism syndrome Acroosteolysis osteoporosis [yumpu.com]

• Thumb Hypoplasia

  The clinical presentation comprises digitalization of thumbs, hypoplasia of the distal phalanges of digits 2–4, total absence of distal phalanges of digit 5, bilateral absence of all distal ceases of digits 2–5, and hypoplasia and complete absence of [nature.com]

• Skin Disease

  Winter erythema (KWE), also known as erythrokeratolysis hiemalis,[1] Oudtshoorn disease[1] and Oudtshoorn skin,[2][3] is a rare autosomal dominant skin disease of unknown cause which causes redness and peeling of the skin on the palms and … Lamellar Ichthyosis [checkrare.com]

  A thousand full-color photographs help you to recognize the characteristic manifestations of every type of skin disease. Hurwitz remains the indispensable pediatric dermatology resource you need for optimal practice. [books.google.es]

  It likewise assumes a basic part in keeping up impeccable skin, treating psoriasis and forestalling skin disease. [globaldermatology.conferenceseries.com]

  Treatment of Skin Disease: Comprehensive Therapeutic Strategies 5th ed. Clinical Management in Psychodermatology. National Curative of Medicine December 11, 'Perioral Curative sud. [sacomexthy.cf]

  FACES syndrome 0 *Anorexia *Cachexia *Eye Abnormalities *Skin Diseases *Facies. Partington Anderson syndrome 0 *Growth Disorders *Microcephaly *Facies Developmental Disabilities. [reference.md]

• Erythema

  Keratolytic Winter erythema (KWE), also known as erythrokeratolysis hiemalis,[1] Oudtshoorn disease[1] and Oudtshoorn skin,[2][3] is a rare autosomal dominant skin disease of unknown cause which causes redness and peeling of the skin on the palms and [checkrare.com]

  José Tiago Teixeira Carina Afonso Maria Bernardete Machado Paulo Morais Case A man, 74 years of age, presented with dactylitis on the first, second and fourth digits of his left hand, characterised by glossy erythema, oedema, pustules and yellowish scales [racgp.org.au]

  […] atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex, autosomal recessive K14 Epidermolysis bullosa simplex, generalized intermediate Epidermolysis bullosa simplex, generalized severe Epidermolytic palmoplantar keratoderma Erythema [se-atlas.de]

  The distal pulp in most of cases shows mild erythema and scaling. It is often misdiagnosed as onychomycosis. [handresearch.com]

  Over time the skin in these areas may become severely atrophic with shiny erythema. Most often patients present with involvement of the nail and dorsal aspect of a single digit, but any number may be involved, as can the palms and soles. [dermatologyadvisor.com]

• Skin Lesion

  FFFD2 is an autosomal dominant disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with [mendelian.co]

  lesions, mental retardation, and punctate epiphyseal calcifications that usually disappear within the first 2 years of life. [rrnursingschool.biz]

  Dystrophic nail plates and recurrent tender paronychia (periungual inflammation) in a child with associated oral thrush warrant screening for chronic mucocutaneous candidiasis. [14] Figure 2: Original photograph shows onychodystrophy and skin lesions [tjmrjournal.org]

• Ectopia Lentis

  lentis[L] 【辺縁角膜炎】*marginal keratitis 【変形細胞症】*poikilocytosis ^＝変形赤血球症 【変形性骨炎】*osteitis deformans[L]/*ostitis deformans[L] 【変形性骨関節炎】*osteoarthritis deformans[L] 【変形性膝関節症】*gonarthrosis ^＝膝関節症 【変形性脊椎炎】*deforming spondylitis *spondylitis deformans[L] 【変形性脊椎症 [medo.jp]

• Tremor

  […] thoracic outlet syndrome胸郭出口症候群 thoracic spine 胸椎、脊柱胸椎部 thrombophlebitis血栓性静脈炎 thumb母指、おや指 tibia 脛骨 toe趾、足ゆび torticollis斜頚 total hip replacement (THR)［人工］股関節全置換［術］ total knee replacement (TKR)［人工］膝関節全置換［術］ traction牽引［法］ transfusion１．輸液、２．輸血 trauma損傷、傷害、外傷 tremor [tokyo-med.ac.jp]

  […] hepatitis 【中毒性肝硬変】*toxic liver cirrhosis/*toxic cirrhosis 【中毒性巨大結腸症】*toxic megacolon 【中毒性結節】*toxic nodule 【中毒性紅斑】*toxic erythema 【中毒性疾患】*toxic disease *nosotoxicosis 【中毒性湿疹】*toxic eczema 【中毒性ショック】*toxic shock 【中毒性ショック症候群】*toxic shock syndrome 【中毒性振戦】*toxic tremor [medo.jp]

• Hypoalbuminemia

  Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus; ACPHD OMIM:208750 Ataxia, Deafness, and Cardiomyopathy OMIM:208850 Ataxia-Deafness-Retardation Syndrome OMIM:208920 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia [informatics.jax.org]

Considerable strides have been made in the treatment of fungal diseases (onychomycoses) with the appearance of new therapeutic agents. [books.google.com]

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

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment - Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges Not supplied. Resources - Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges [checkorphan.org]

Prognosis - Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges Not supplied. Treatment - Anonychia-onychodystrophy with hypoplasia or 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. [journals.lww.com]

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]

What is the prognosis ? Acrodermatitis continua of Hallopeau is a chronic disease that may eventually destroy the nail and underlying bone as described above. [dermnetnz.org]

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]

Cooks syndrome is considered a clinical form of brachydactyly type B (see this term), distinct from the typical variant with sparing or duplication of the thumbs and caused by mutations in the ROR2 gene (9q22).EtiologyThe exact etiology of Cooks syndrome [malacards.org]

Terminology Alternate terms: Adolescent / juvenile macromastia / gigantomastia Other forms of gigantomastia not specific to adolescence Gravid macromastia Penicillamine induced Etiology Unclear Genetic Mammary digital nail syndrome - rare Anonychia onychodystrophy [pathologyoutlines.com]

[…] nasal alae Abnormality of limbs Complete duplication of thumb phalanx Short 5th finger Shortening of all distal phalanges of the fingers Shortening of all distal phalanges of the toes Abnormality of the integument Anonychia Nail dysplasia Nail dystrophy Etiology [ncbi.nlm.nih.gov]

Summary Epidemiology To date, less than 20 individuals have been described in the world literature. [orpha.net]

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]

Epidemiology and clinicopathology of aortic dissection. Chest. 2000;117(5):1271–8 PubMed PMID:10807810. Article Google Scholar 2. Immer FF, Bansi AG, Immer-Bansi AS, et al. Aortic dissection in pregnancy: analysis of risk factors and outcome. [bmcpregnancychildbirth.biomedcentral.com]

Ishwar C Verma and Dhavendra Kumar: ‘Epidemiology of genetic diseases in the Indian Subcontinent’ • Kumar D: ‘Congenital developmental anomalies’. • Dhavendra Kumar, Michael Patton, Ajith Kumar: ‘Genetic neurological and psychiatric disorders’. [staff.southwales.ac.uk]

Events Related Associations: USA and Canada: American Society for Dermatologic Surgery, American Society for Laser Medicine and Surgery, American Society for Mohs Surgery, Cyprus Society of Dermatology European Union and Great Britain: European Dermato-Epidemiology [globaldermatology.conferenceseries.com]

This paper provides an extremely current and robust review of therapeutic options and discusses proposed pathophysiologic mechanisms in detail.) Ryan, C, Collins, P, Kirby, B, Rogers, S. [dermatologyadvisor.com]

Clubbing: An update on diagnosis, differential diagnosis, pathophysiology, and clinical relevance. J Am Acad Dermatol 2005;52:1020-8. 47. Wiesmann F, Beer M, Krause U, Pabst T, Kenn W, Hahn D, et al. [tjmrjournal.org]

Prevention - Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges Not supplied. Diagnosis - Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges Not supplied. [checkorphan.org]

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]

Views How To Eliminate, Prevent & Reverse The Way Our Body Ages & Dies Basic nutrition is often thought of in terms of Carbohydrates, Fats and Proteins. [momentumhealth.net]

In order to minimize the wound, we used a Cook balloon to prevent uterine bleeding. [bmcpregnancychildbirth.biomedcentral.com]