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Polysyndactyly

PPD4


Presentation

  • Abstract A 15-month-old male child with the Greig polysyndactyly-craniofacial dysmorphism syndrome is presented and the relevant literature is reviewed.[ncbi.nlm.nih.gov]
  • A minor expression of this autosomal dominant syndrome was present in the father.[ncbi.nlm.nih.gov]
  • Author information 1 Department of Dermatology, Amrita Institute of Medical Sciences, Kochi, Kerala, India. ferozkal@hotmail.com Abstract A 7-year-old boy diagnosed as a case of nevus comedonicus syndrome is presented because of the rarity of the condition[ncbi.nlm.nih.gov]
  • On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery, are[icd10data.com]
  • Abstract An Egyptian Jewish family in which polysyndactyly is transmitted through four generations with 17 affected individuals is presented. The malformation is caused by an autosomal dominant gene with full penetrance and variable expressivity.[ncbi.nlm.nih.gov]
Multiple Congenital Anomalies
  • GCPS is an autosomal dominant pleiotropic syndrome with multiple congenital anomalies, primarily a triad of polysyndactyly particularly crossed polydactyly, macrocephaly and hypertelorism.[indianpediatrics.net]
Fishing
  • The duplication was also confirmed by interphase fluorescence in situ hybridisation (FISH) in an affected individual. We designed 17 additional qPCR assays and defined the minimum duplications in all six families, ranging from 131kb to 398kb.[jmg.bmj.com]
  • FISH works well for deletions and duplications that are about 50% or more the size of the probes used in the assay. However, because the sizing of deletions is important for prognosis (see above) it can be tedious to determine this with FISH.[ojrd.biomedcentral.com]
Broad Great Toe
  • great toes preaxial polysyndactyly duplication or triplication of phalanges Clinical features from OMIM: 234280 MalaCards organs/tissues related to Hallux Varus and Preaxial Polysyndactyly: 42 Bone Search GEO for disease gene expression data for Hallux[malacards.org]
Coarctation of the Aorta
  • Format Definition A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta.[uniprot.org]
Turkish
  • Using whole‐exome sequencing, we identified a homozygous acceptor splice‐site mutation in intron 6 of the KATNB1 gene in a patient from a consanguineous Turkish family who presented with congenital microcephaly, lissencephaly, short stature, polysyndactyly[ingentaconnect.com]
Advanced Bone Age
  • In some individuals with GCPS, X-ray studies may also reveal advanced bone age. Macrocephaly is defined as a head circumference greater than the 97th centile compared to appropriate age and sex standards.[rarediseases.org]
Distractibility
  • Correcting and lengthening of metatarsal deformity with circular fixator by distraction osteotomy: a case of longitudinal epiphyseal bracket. Foot Ankle Int. 2002; 23(5):427-432. 45. Nguyen JQ, Gatewood JB, Beall D, et al.[podiatrytoday.com]
Broad Nasal Bridge
  • Craniofacial malformations associated with this disorder may include a large and/or unusually shaped skull; metopic synostosis; a high, prominent forehead (frontal bossing); an abnormally broad nasal bridge; widely spaced eyes (ocular hypertelorism);[rarediseases.org]

Treatment

  • A new surgical technique is described for the treatment of polysyndactyly and syndactyly of the toes. The lateral aspects of the toes are covered by only the interdigital skin without any skin grafts.[ncbi.nlm.nih.gov]
  • The authors' new improved surgical technique for the treatment of polysyndactyly of the toes does not require a skin graft and therefore avoids these problems.[ncbi.nlm.nih.gov]
  • In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in[books.google.com]
  • Fibular hemimelia—diagnostic management, principles, and results of treatment. J Pediatr Orthop B. 2013;22(5):450-456.[consultant360.com]
  • Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]

Prognosis

  • An autosomal dominant pattern of transmission is also associated with a favorable prognosis.[roentgenrayreader.blogspot.com]
  • Prognosis - Short ribs craniosynostosis polysyndactyly Not supplied. Treatment - Short ribs craniosynostosis polysyndactyly Not supplied. Resources - Short ribs craniosynostosis polysyndactyly Not supplied.[checkorphan.org]
  • Prognosis The prognosis of typical GCPS is good with a low or background rate of cognitive impairment, which is typically the most worrisome manifestation of the disorder among affected families.[ojrd.biomedcentral.com]
  • Prognosis For children with isolated polydactyly and syndactyly, the prognosis is excellent. After surgery most children will have full use of their fingers and toes.[healthofchildren.com]
  • Prognosis is dependent on the degree of hypotonia and early onset of epilepsy rather than the degree of craniofacial and limb malformations.[ispub.com]

Etiology

  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • Pathology by regions Limbs polysyndactyly Wednesday 1 December 2004 Etiology (exemples) Greig cephalo polysyndactyly syndrome (MIM.175700) ( GLI3 mutations at 7p13) acrocephalopolysyndactyly syndromes (ACPS) A CPS1 (acrocephalopolysyndactyly type 1) ACPS2[humpath.com]
  • In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and[books.google.com]
  • Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the Sonic hedgehog-patched-GLI pathway. Am. J. Med. Genet. 146A: 2589-2597, 2008. Temple, I. K., Eccles, D. M., Winter, R.[med2000eco.it]
  • Etiology More than 75% of patients with clinically recognizable GCPS who have been evaluated in the NIH study have been found to have mutations in GLI3 [ 6 ].[ojrd.biomedcentral.com]

Epidemiology

  • Epidemiology The incidence of GCPS is difficult to estimate. It is impossible to determine the incidence of a disorder for which there are no reliable clinical criteria and molecular diagnostics are not yet in wide use.[ojrd.biomedcentral.com]
  • They added that diabetes in the mothers pointed to a possible genetic predisposition interacting with teratogenic effects of poor glycemic control. [18] Epidemiology The incidence of polydactyly is 1.7 cases per 1000 live births.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Removing the extra digit through disarticulation is the standard treatment. [4, 11, 12, 13] Pathophysiology Polydactyly may be divided into three broad categories as follows: Postaxial polydactyly (lateral ray) Preaxial polydactyly (medial) Central polydactyly[emedicine.medscape.com]

Prevention

  • - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis[codelay.com]
  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
  • […] fontanel * Low set ears * Narrow ribcage * Premature fusion of skull bones * Protruding eyes * Short head * Short neck * Short ribs * Short stature * Small jaw * Small mouth * Under developed kidneys * Underdeveloped lungs * Webbed fingers * Wide set eyes Prevention[checkorphan.org]
  • Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein.[ghr.nlm.nih.gov]

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