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Brachydactyly Type E

Brachydactyly Syndrome Type E


Presentation

  • We present clinical and molecular analysis of six individuals with overlapping deletions involving 2q37.3 that refine the critical region, reducing the candidate genes from 20 to a single gene, histone deacetylase 4 (HDAC4).[ncbi.nlm.nih.gov]
  • Results: BDD was present in 3.55%, and BDE was present in 0.39%, of the study sample.[uthscsa.influuent.utsystem.edu]
  • The patient did not present with other malformations or complains requiring any further evaluation.[ijcasereportsandimages.com]
Italian
  • In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25.[ncbi.nlm.nih.gov]
  • Brachydactyly type E in an Italian family with 6p25 trisomy. European Journal of Medical Genetics . March 2017; 60(3):195-199. . Temtamy SA and Aglan MS. Brachydactyly. Orphanet J Rare Dis . 2008; 3:15. .[rarediseases.info.nih.gov]
Short Humerus
  • Here, we report on a three-generation pedigree with short humerus, curved radius, and a specific type of severe brachydactyly with features of types E and A1 but without the enchondromatas and the acro-osteolysis.[ncbi.nlm.nih.gov]
Sleep Disturbance
  • BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance, craniofacial and skeletal abnormalities (including brachydactyly type E), and autism spectrum disorder.[ncbi.nlm.nih.gov]

Workup

  • In the case of our patient, no further workup was considered. Her brachydactyly was categorized as type E in Bell’s classification system.[consultant360.com]
Increased Bone Density
  • In conclusion we suggest that these two sibs with a combination of brachydactyly, mental retardation and increased bone density have a specific autosomal recessive syndrome.[ncbi.nlm.nih.gov]

Treatment

  • The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies.[ncbi.nlm.nih.gov]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.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 - Brachydactyly type E If brachydactyly type E is isolated and is not causing other physical or health problems, treatment may not be necessary. Resources - Brachydactyly type E Not supplied.[checkorphan.org]
  • The patient’s only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies.[casereports.bmj.com]

Prognosis

  • Prognosis - Brachydactyly type E Most people who only have brachydactyly type E without any other health or physical problems do not find their quality of life affected very much by having smaller hands and feet, as long as they have full use of their[checkorphan.org]
  • The prognosis (outlook) is most favorable with Pfeiffer syndrome type 1. Types 2 and 3 carry an increased risk of early death.[dxline.org]
  • […] brachydactyly usually is transmitted in an autosomal dominant pattern, with variable penetrance. 3 The literature is scarce on the incidence of concomitant brachymetacarpia and brachymetatarsia. 4 Mild brachydactyly often is insignificant in terms of functional prognosis[consultant360.com]
  • 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]

Etiology

  • AB - Objectives: There is phenotypic overlap between Brachydactyly Type D (BDD) and Brachydactyly Type E (BDE) that suggests a possible common underlying etiology.[uthscsa.influuent.utsystem.edu]
  • 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]
  • There is phenotypic overlap between Brachydactyly Type D (BDD) and Brachydactyly Type E (BDE) that suggests a possible common underlying etiology.[ashg.org]
  • PubMed Google Scholar Graham JM, Krakow D, Tolo VT, Smith AK, Lachman RS: Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypopthyroidism.[ojrd.biomedcentral.com]

Epidemiology

  • Methods: The Jirel ethnic group of eastern Nepal participates in various genetic epidemiologic studies, including those in which hand-wrist radiographs have been taken to examine skeletal development.[uthscsa.influuent.utsystem.edu]
  • 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]
  • The Jirel ethnic group of eastern Nepal participates in various genetic epidemiological studies, including those of skeletal growth and development.[ashg.org]
  • Epidemiology A very rare digital malformation. No epidemiologic studies available. Reported pedigrees are summarized in OMIM [ 4 ].[ojrd.biomedcentral.com]
  • Chromosome 12 , Chromosome 2 , Chromosome 3 , Chromosome 4 , Chromosome 5 , Chromosome 6 , Chromosome 7 , Chromosome 8 , Chromosome 9 , Chromosome X , Chromosome Y , CREB , Cyclic adenosine 3 , Diet , DNA , DNA Sequencing , Drugs , Endocrinology , Enzyme , Epidemiology[news-medical.net]
Sex distribution
Age distribution

Pathophysiology

  • The cause of Aarskog-Scott syndrome in other affected individuals is unknown. [3] Pathophysiology [ edit ] The Aarskog–Scott syndrome is due to mutation in the FGD1 gene.[en.wikipedia.org]

Prevention

  • Abstract Parathyroid hormone-like hormone (PTHLH, MIM 168470) plays an important role in endochondral bone development and prevents chondrocytes from differentiating.[ncbi.nlm.nih.gov]
  • Symptoms - Brachydactyly type E Causes - Brachydactyly type E Prevention - Brachydactyly type E Not supplied.[checkorphan.org]
  • FAS is the main reason of disturbances of intellectual development which can be prevented.[en.medicalmed.de]
  • 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]
  • At last, dietary and lifestyle measures are recommended to prevent obesity. Gene PRKAR1A gene, 17q24.2 (OMIM gene/locus number #188830 ).[iofbonehealth.org]

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