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]
Entire Body System
- Short 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]
Skin
- 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]
[…] of both hands’ ring fingers and little fingers and both feet's 5th toenails and hypoplastic nails of the 2nd, 3rd and 4th toes, since birth (Figure 1). [actasdermo.org]
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]
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]
- Normal Hair
Sexual development was normal. No facial anomaly was detected. Hair and mucous membrane did not reveal any abnormality. The anterior fontanalle was normal for age. [ijpd.in]
Musculoskeletal
- Brachydactyly
A novel patient with Cooks syndrome supports splitting from “classic” brachydactyly type B. Am J Med Genet Part A 143A:195–199. [doi.org]
Metacarpals and bones of forearm appear normal Click here to view Brachydactyly A, brachydactyly B and mammary-digital-nail syndrome were considered for the differential diagnosis. [ijpd.in]
brachydactyly type B and Cooks syndrome. [en.wikipedia.org]
[…] affected by an isolated form of brachydactyly type B (BDB)-like malformation of the limbs consistent with Cooks syndrome (CS). [scinapse.io]
- 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]
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]
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]
Prognosis
Prostate Cancer Prostate cancer is predominantly an indolent cancer with a variable and unpredictable prognosis. Therefore, the main goals of Dr. [dceg.cancer.gov]
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]
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]
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
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]
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 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 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]
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]
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]