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Brachydactyly
Presentation
- There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental[ncbi.nlm.nih.gov]
- The hand deformities of 10 patients with brachydactyly type C are presented to characterize the hand abnormalities in the syndrome and its variable presentation.[ncbi.nlm.nih.gov]
- The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms.[ncbi.nlm.nih.gov]
- RESULTS: Nine patients had FTE and 7 patients had brachydactyly; 4 patients presented both features and none of them presented high PTHrP levels.[ncbi.nlm.nih.gov]
- However, it was not possible to suggest a syndrome diagnosis in the present case.[ncbi.nlm.nih.gov]
Cardiovascular
Chest Pain
- We describe the case of 60 year-old woman with a chest pain occurred after a quarrel. Because of this, she went to the Emergency Department (ED) where T wave flat in lead D-I, increase of CK-MB mass and Troponin I were found.[ncbi.nlm.nih.gov]
Musculoskeletal
Decrease in Height
- […] body height Small stature [ more ] 0004322 Short tibia Short shinbone Short skankbone [ more ] 0005736 Short toe Short toes Stubby toes [ more ] 0001831 Tarsal synostosis Fused ankle bones 0008368 Type A brachydactyly 0009370 Showing of 20 Last updated[rarediseases.info.nih.gov]
- Showing of 29 80%-99% of people have these symptoms Short foot Short feet Small feet [ more ] 0001773 Short hallux Short big toe 0010109 Short middle phalanx of finger Short middle bone of finger 0005819 Short stature Decreased body height Small stature[rarediseases.info.nih.gov]
- […] body height Small stature [ more ] 0004322 Stippling of the epiphysis of the distal phalanx of the thumb Speckled calcifications in the end part of the outermost thumb bone 0009684 Triangular epiphysis of the middle phalanx of the 2nd finger Triangular[rarediseases.info.nih.gov]
Short Humerus
- The phenotype consists of short humerus, curved radius with accessory ossification centre at the proximal third of ulna, variable short stature and brachydactyly, and has not been reported to the best of our knowledge.[ncbi.nlm.nih.gov]
Hyperextensible Joints
- ) joints in the hands.[rarediseases.info.nih.gov]
Neurologic
Spastic Gait
- He was noted to toe-walk at age 18 months and spasticity progressed slowly into a spastic gait with contractures. He has mild dysarthria and hypernasal speech. Brachydactyly is notable but cannot be classified into one of the recognized types.[ncbi.nlm.nih.gov]
Spastic Paraplegia
- Fitzsimmons syndrome is an infrequently described entity comprising slowly progressive spastic paraplegia, brachydactyly, and cone-shaped epiphyses, dysarthria, and low-normal intelligence. Five patients with this syndrome have been reported.[ncbi.nlm.nih.gov]
Workup
X-Ray
Shortened Long Bone
- long bone of hand 0010049 Short palm 0004279 Short proximal phalanx of hallux Short innermost big toe bone 0010107 Short proximal phalanx of thumb 0009638 Slender metacarpals Slender long bones of hand 0006236 Thin proximal phalanges with broad epiphyses[rarediseases.info.nih.gov]
Hypertrophy
Ventricular Hypertrophy
- Echocardiographic examination, besides mild left ventricular hypertrophy, was normal. Magnetic resonance angiography (angio-MR) revealed bilateral abnormal PICA loops and neurovascular conflict.[ncbi.nlm.nih.gov]
Treatment
- Concerning her cosmetic complaints, options for surgical treatment were discussed. It was decided to treat only the nasal deformity by open rhinoplasty, leaving the nail deformities undisturbed.[ncbi.nlm.nih.gov]
- Treatment Treatment Options: No treatment has been reported.[disorders.eyes.arizona.edu]
- Since the patient was not physically challenged, no treatment was offered.[ncbi.nlm.nih.gov]
- Different types of brachydactyly Treatment In many cases, brachydactyly doesn't cause any significant problem for the person who has a short finger or toe, so there may really be no need for any treatment whatsoever.[study.com]
Prognosis
- If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies.[ncbi.nlm.nih.gov]
- […] phalanges Treatment: Conservative Occupational Therapy for adaptive needs, but often not necessary Surgical cosmetic ‘nubbin’ removal bone lengthening for improved pinch formation of satisfactory radial and ulnar ‘posts’ web-space deepening Outcomes: Prognosis[posna.org]
- What is the prognosis? If the malformation of the digits is not severe, then hand and foot function will be normal. Function can be severely affected with more pronounced cases of brachydactyly.[bodyandhealth.canada.com]
- Prognosis Isolated BD generally has an excellent prognosis. When BD is associated with other health problems or is part of another condition, the overall prognosis depends upon the nature of the associated condition.[encyclopedia.com]
- Physical therapy and ergotherapy may ameliorate hand function. • Prognosis Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function.[ncbi.nlm.nih.gov]
Etiology
- Presently, several etiologies were considered for the development of TTS, the most accredited ones suggest that stress, adrenoreceptor hyperactivity and estrogens are the most important causes of transient morphofunctional alterations of left ventricle[ncbi.nlm.nih.gov]
- In zebrafish, antisense-mediated chsy1 knockdown causes defects in multiple developmental processes, some of which are likely to also be causative in the etiology of TPBS.[ncbi.nlm.nih.gov]
- Etiology BDE may be due to mutations in the PTHLH gene (12p12.1-p11.2) or HOXD13 (2q31-q32). Antenatal diagnosis It is inherited as an autosomal dominant trait with variable expressivity.[orpha.net]
- Hand Malformations Hand and finger malformations represent a challenging area of clinical genetics from the standpoint of understanding the classification as well as in understanding the genetic etiologies, which are often due to single gene mutations[peds.ufl.edu]
- Etiology unknown manifests at gestational week 6-8 Genetics depends on the specific type of brachydactyly Defects in: Bone Morphogenic Protein (BMP), Indian Hedgehog (IHH), and HOX have been identified Incidence in general it is rare however in types[posna.org]
Epidemiology
- Epidemiology It has been reported in one family. Last updated: 7/10/2008[rarediseases.info.nih.gov]
- Epidemiology A very rare digital malformation. No epidemiologic studies available. Reported pedigrees are summarized in OMIM [ 4 ].[ncbi.nlm.nih.gov]
- The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.ro]
- Summary Epidemiology BDE is very rare. Clinical description Occasionally, the metatarsals are also short. Hyperextensibility of the hand joints is a striking feature. Axial triradius may occur.[orpha.net]
Sex distribution
Age distribution
Pathophysiology
- Pathophysiology The specific pathophysiologic mechanism of digital clubbing remains unknown. Many theories have been proposed, yet none have received widespread acceptance as a comprehensive explanation for the phenomenon of digital clubbing.[emedicine.medscape.com]
Prevention
- The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.ro]
- The patient was treated for his wounds and referred to physical therapy, to help improve his fine motor skills, to prevent similar accidents in the future. References Temtamy SA, McKusick VA. The Genetics of Hand Malformations.[ijcasereportsandimages.com]
- To prevent this the amount of lengthening should not exceed 40% of the preoperative length of the metatarsal. J Bone Joint Surg [Br] 1997;79-B:955-8.[the-medical-dictionary.com]
- In some cases physical and occupational therapy are required to help maximize usage of the arm and prevent muscle tightening.[dellchildrens.net]