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Syndactyly Type 3

SD3


Presentation

  • Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations.[books.google.com]
  • Schematic presentation of the HOXD13 structure and sequences alignment analysis. A: Schematic presentation of the HOXD13 structure and annotated mutations identified in families.[journals.plos.org]
  • The documents contained in this web site are presented for information purposes only. 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]
  • A phenotypic comparison of the four subtypes is presented in Figure 1 as a simplified graph. 4 Figure 1 Graphical representation of the clinical spectrum of syndactyly type I based on the protocol of Malik et al 2005. 4 Here, we present linkage data of[nature.com]
Tachycardia
  • […] dominant Emery-Dreifuss muscular dystrophy Autosomal dominant progressive external ophthalmoplegia Autosomal dominant spastic paraplegia type 13 Autosomal recessive cutis laxa type 2B Blackfan-Diamond anemia Catecholaminergic polymorphic ventricular tachycardia[csbg.cnb.csic.es]
Myopathy
  • Chronic intestinal pseudoobstruction Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy Congenital fiber-type disproportion myopathy Congenital myopathy with excess of thin filaments Congenital short bowel syndrome Congenital[csbg.cnb.csic.es]
Cutis Laxa
  • laxa type 2B Blackfan-Diamond anemia Catecholaminergic polymorphic ventricular tachycardia Charcot-Marie-Tooth disease type 1F Childhood-onset nemaline myopathy Chronic intestinal pseudoobstruction Congenital cataract - hypertrophic cardiomyopathy -[csbg.cnb.csic.es]
Pelvic Pain
  • Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound[books.google.com]
Ataxia
  • […] type 26 Terminal osseous dysplasia - pigmentary defects Translocation renal cell carcinoma Typical nemaline myopathy Young adult-onset Parkinsonism Spinocerebellar ataxia type 14 X-linked non-syndromic intellectual deficit Synonym(s): - SD3 - Syndactyly[csbg.cnb.csic.es]
Dystonia
  • […] deficiency Muscle filaminopathy Osteodysplasty, Melnick-Needles type Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 PYCR1-related DeBarsy syndrome Pelizaeus-Merzbacher-like due to HSPD1 mutation Periventricular nodular heterotopia Primary dystonia[csbg.cnb.csic.es]

Workup

  • […] technique a segmental distal transfer (on-top plasty) Postaxial Polydactyly (Small Finger Duplication) Epidemiology demographics Genetics inherited as autosomal dominant (AD) in African Americans more complex genetics in caucasians and a thorough genetic workup[orthobullets.com]

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]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Further, the various diseases of bone that are peculiar to children are highlighted and discussed in the light of our current knowledge with regard to causation, clinical signs and treatment.[books.google.com]

Prognosis

  • Prognosis The prognosis of Pfeiffer's syndrome depends on the severity of the associated anomalies.[skullbaseinstitute.com]
  • Treatment and prognosis The overall prognosis can be extremely variable dependent on the presence of other associated anomalies.[radiopaedia.org]
  • If present, proximal metacarpal synostosis should also be separated early to improve mobility of the fifth ray Outcomes: Prognosis Hand function and prognosis is best with the combination of thumb and little finger separation.[posna.org]
  • Those with type 2 have the distinctive cloverleaf skull syndrome (kleeblattschädel deformity) with severe CNS complications and a poor prognosis. Those with type 3 lack the cloverleaf skull but have CNS defects and a similarly poor prognosis.[consultant360.com]
  • Favorable outcomes can be attained but the prognosis still remains poor in severe cases because of the risk of respiratory and neurological complications.[drugsdetails.com]

Etiology

  • Etiology The locus associated with SD3 maps to 6q21-q23. Mutations in the GJA1 gene may be causative.[orpha.net]
  • Campylo arched and Dactylos finger Etiology A consequence of anatomical imbalance between the extrinsics and anomalous insertion of intrinsics to the affected finger Primary etiology: Anomalous lumbrical insertion to the superficial flexor Secondary etiology[posna.org]
  • The etiology of craniosynostosis is heterogeneous. Isolated occurrence with unknown etiology is common, mostly affecting the sagittal suture.[ommbid.mhmedical.com]

Epidemiology

  • Summary Epidemiology The prevalence is unknown. Clinical description In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The feet are not affected.[orpha.net]
  • SD3 - Syndactyly of fingers 4 and 5 Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Introduction A congential malformation of the hand Three forms exist preaxial polydactlyly thumb duplication postaxial polydactlyly small finger duplication central polydactlyly Preaxial Polydactyly (Thumb Duplication) Epidemiology incidence 1 per 1,000[orthobullets.com]
  • Jordan D, Hindocha S, Dhital M, Saleh M, Khan W (2012) The epidemiology, genetics and future management of syndactyly. Open Orthop J 6: 14-27.[omicsonline.org]
Sex distribution
Age distribution

Pathophysiology

  • This provides a platform for ongoing work to understand the processes of suture biogenesis and the pathophysiology of craniosynostosis mutations.[ommbid.mhmedical.com]
  • Pathophysiology and treatment. Yale J Biol Med. 1993 May-Jun; 66(3): 143–155. 2. Patterson, TJ. Congenital ring-constrictions. BR J Plast Surg. 1961;14:1-31 3. Miura T. Congenital constriction band syndrome. J Hand Surg Am. 1984;9:82–88. 4.[posna.org]

Prevention

  • Our radiologists have special expertise using ultrasound to look for bone and joint changes so we can work with your child to help prevent future problems.[seattlechildrens.org]
  • You will have several follow-up appointments, and after the cast is removed, your child will be fitted for a splint to help prevent scarring and contracture (shortening of tissue).[craniofacialteamtexas.com]
  • Cases of syndactyly usually do not require repair; the aim of web reconstruction for syndactyly of the foot is purely cosmetic [ 10 ], to prevent the associated significant psychological morbidity and allow the patient to gain social acceptance [ 11 ][omicsonline.org]
  • Too early fusion of skull bones may prevent skull normal growth affecting the shape of a face and head. Abnormalities of skull bones may lead to high forehead, bulging and wide-set eyes, underdeveloped upper jaw and a beaked nose.[drugsdetails.com]
  • Early repair can prevent the boney fusion of fingers from causing worsening finger deformities, and allow the digits to grow. Complete, complex syndactyly, before (left) and after (middle and right) surgery.[chop.edu]

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