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Preaxial Brachydactyly - Hallux Varus Syndrome

Christian Brachydactyly


Presentation

  • It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice.[whonamedit.com]
  • Short first metacarpals and abduc- tion of the thumbs at the MCP joint were present in the father's hands (Fig. 2) and the sistcr's hands (Fig. 3).[myslide.es]
  • Broad thumbs and broad big toes are present in almost all cases.[ommbid.mhmedical.com]
  • 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]
  • However, postaxial polydactyly is present only in SRPS, while hypomineralization is only rarely present in some subtypes of SRPS.[ijri.org]
Broad Thumb
  • Broad thumbs and toes, and unusual facial features. A possible mental retardation syndrome. Am J Roentgenol 1965; 93: 362–366. Google Scholar Copyright information International Skeletal Society 1995 Authors and Affiliations J. E. Lim-Dunham 1 A. K.[link.springer.com]
  • Broad thumbs and toes, and unusual facial features. A possible mental retardation syndrome. Am J Roentgenol 1965; 93: 362-366.[myslide.es]
  • Broad thumbs and broad big toes are present in almost all cases.[ommbid.mhmedical.com]
  • Short and broad thumbs and halluces occur in association with anky-losis of stapes, hyperopia, and syndactyly in Teunis-sen-Cremers syndrome (OMIM 184460) (Teunissen and Cremers 1990).[rrnursingschool.biz]
  • Rubinstein J H (19901: Broad thumb-hallux (Rubinstein Taybi) syn- drome 1957-1988. Am J Med Genet 6:3-16.[docslide.com.br]
Developmental Delay
  • Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, in the United States, physicians who practice clinical genetics are accredited by the American Board of Medical[wikivisually.com]
Heart Disease
  • Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease[books.google.com]
  • disease, median cleft lip, and anophthalmia. [7] On pathological examination, the physis is markedly retarded and disorganized. [8] SRPS should be differentiated from other skeletal dysplasias presenting with micromelia and thoracic hypoplasia namely[ijri.org]
Skeletal Dysplasia
  • New skeletal dysplasia with unique brachydactyly. Am J Med Genet 1992; 42: 706–713 Google Scholar 3. Sharma AK, Haldar A, Phadke SR, Agarwal SS. Preaxial brachydactyly with abduction of thumbs and hallux varus: a distinct entity.[link.springer.com]
  • Skeletal dysplasias. In: McAteer M, editor. Taybi and Lachman's radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5 th ed. Philadelphia: Mosby; 2007. p. 1054. 5.[ijri.org]
  • New skeletal dysplasia with unique brachydactyly. Am J Med Genet 1992; 42:706-713 3. Sharma AK, Haldar A, Phadke SR, Agarwal SS. Preaxial brachydactyly with abduction of thumbs and hallux varus: a distinct entity. Am J Med Genet 1994; 49: 274-277 4.[myslide.es]
  • […] number of syndromes, most of which are known by other names: (1) Adducted thumb syndrome (OMIM 201550), see there (2) Hand-Schüller-Christian disease, formally, haemophagocytic lymphohistiocytosis—familial—type 1 (OMIM:267700) (3) Mental retardation—skeletal[newmedicalterms.com]
  • Dysplasia, Mental Retardation, Abducens Palsy [MIM 309620] (5) Weber-Christian Disease, aka Relapsing Nodular Nonsuppurative Panniculitis Christian, Henry Asbury, U.S. internist, 1876-1951.[medical-dictionary.thefreedictionary.com]
Short Hands
  • Short hands, feet, shanks, and forearms are present in acromesomelic dysplasia [Maroteaux et al, 19711.[docslide.us]
Thumb Hypoplasia
  • Thumb Hypoplasia Aplasia Many instances of thumb hypoplasia/aplasia occur in the context of a more extensive longitudinal defect of the radial ray, a subject discussed in a specific section in this chapter.[rrnursingschool.biz]
Thumb Absence
  • Diagnosis - Thumb absence hypoplastic halluces Not supplied. Prognosis - Thumb absence hypoplastic halluces Not supplied. Treatment - Thumb absence hypoplastic halluces Not supplied. Resources - Thumb absence hypoplastic halluces Not supplied.[checkorphan.org]
Suggestibility
  • Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.[books.google.com]
  • Since r val- ues above 0.8 are considered indica- tive of a characteristic hand pattern, the r value of 0.89 strongly suggests that the malformation syndromes in the two families are identical and that our three cases are indeed new examples of Christian[myslide.es]
  • A suggested working approach Springer Verlag , Journal of Genetic Counseling , 1 (3), p. 81-83. Upload Anita K. Sharma , Shubha R. Phadke , M. Kamboj , S. S.[dissem.in]
  • Animal models and biochemical evidence suggest that RTS is caused by haploinsufficiency of CBP during fetal development. The exact developmental pathways affected by reduced levels of CBP are unknown.[ommbid.mhmedical.com]
  • […] inheritance shown in man and was reported to be a simple dominant. [4] Pol named the anomaly, which is characterized by hypoplastic disturbances centred on the middle phalanges of the central rays with associated syndactyly. [12] Muller (1937) first suggested[bhj.org.in]
Excitement
  • In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future.[books.google.com]
  • They went to Excite CEO George Bell and offered to sell it to him for 1 million, vinod Khosla, one of Excites venture capitalists, talked the duo down to 750,000, but Bell still rejected it.[wikivisually.com]

Workup

  • J Med Genet 34: 582–586 PubMed Google Scholar Froster UG, Stallmach T, Wisser J et al. (1997) Lethal multiple pterygium. syndrome: Suggestion for a consistent pathological workup and review of reported cases.[link.springer.com]

Treatment

  • Treatment - Thumb absence hypoplastic halluces Not supplied. Resources - Thumb absence hypoplastic halluces Not supplied.[checkorphan.org]
  • 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]
  • Exogenous human surfactant for treatment of severe respiratory distress syndrome: a randomized prospective clinical trial. ‎[books.google.es]
  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]

Prognosis

  • Prognosis - Thumb absence hypoplastic halluces Not supplied. Treatment - Thumb absence hypoplastic halluces Not supplied. Resources - Thumb absence hypoplastic halluces Not supplied.[checkorphan.org]
  • Childs Nerv Syst 2005;21:902-912 Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D: Prognosis for mental function in Apert's syndrome.[karger.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Spontaneous idiopathic Spontaneous idiopathic hallux varus may be noted incidentally and is usually supple (see the images below). [5] An etiologic factor is not always demonstrable. Clinical photo of idiopathic hallux varus of left foot.[emedicine.medscape.com]
  • The procedure is based on an etiological theory regarding metatarsus primus varus as the primary cause of the deformity, which is in accordance with the opinion of many other authors.[readbyqxmd.com]
  • J Craniofac Genet Dev Biol 1994;14:48-56 Cohen MM, Jr: Cloverleaf skulls: Etiologic heterogeneity and pathogenetic variability. J Craniofac Surg 2009;20:652-656 Cohen MM, Jr, Kreiborg S: The central nervous system in the Apert syndrome.[karger.com]

Epidemiology

  • Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease[books.google.com]
  • ORPHA:1278 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: Neonatal ICD-10: Q73.8 OMIM: 112450 UMLS: C1862162 MeSH: - GARD: 972 MedDRA: - Summary Epidemiology The syndrome has been described in eight affected individuals from four[orpha.net]
  • Am J Med Genet 71: 8–15 PubMed Google Scholar Rittler M, Paz JE, Castilla EE (1997) VATERL: an epidemiologic analysis of risk factors.[link.springer.com]
Sex distribution
Age distribution

Prevention

  • […] deletion * 46,XX chromosome 7 deletion p13 * 49,XXXXX syndrome * Acro-pectoro-renal field defect * Acro-reno-ocular syndrome * Acrofacial dysostosis autosomal recessive * Acrofacial dysostosis Catania form * Acrofacial dysostosis postaxial, atypical Prevention[checkorphan.org]
  • The osteotomy corrects the malposition of the first metatarsal bone thereby reducing the deformity and preventing its recurrence... December 1982: Acta Orthopaedica Scandinavica # 383 F Magerl No abstract text is available yet for this article.[readbyqxmd.com]

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