Broad thumbs and broad big toes are present in almost all cases. [ommbid.mhmedical.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]

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]

Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises $299 Million January 23, 2019 By Daniel S. [globalgenes.org]

ORPHA:1278 Classification level: Disorder Synonym(s): - Prevalence: <1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Neonatal ICD-10: Q73.8 OMIM: 112450 UMLS: C1862162 MeSH: - GARD: 972 MedDRA: - The documents contained in this web site are presented [orpha.net]

• Disability

  disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability [se-atlas.de]

  […] varus syndrome Other names Christian brachydactyly Radiographs and pictures of the hands and feet of individuals with Brachydactyly-preaxial hallux varus syndrome.[1] Specialty Medical genetics Symptoms Minor physical anomalies alongside intellectual disability [en.wikipedia.org]

  Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014 ).For a general [mendelian.co]

  […] syndrome Arachnodactyly - intellectual disability - dysmorphism Aminolevulinate dehydratase deficiency porphyria Ankyloblepharon filiforme imperforate anus Spastic paraplegia 7 Spastic paraplegia 26 Trichodental syndrome Spastic paraplegia 5A Wagner [checkrare.com]

  Hallux valgus; Hallux varus; Hammer toes; the disability, etc., Foot and ankle institute - Building Ariane. [utomawynyconaqako.xpg.uol.com.br]

• Short Stature

  Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. [mendelian.co]

  […] rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome, Verma-Naumoff type Short stature, Brussels type Short stature-auditory canal [se-atlas.de]

  Christian syndrome - (1) autosomal recessive trait causing craniosynostosis, arthrogryposis, cleft palate, microcephaly, and other musculoskeletal abnormalities; Synonym(s): adducted thumbs syndrome ; (2) X-linked trait causing short stature, cervical [medical-dictionary.thefreedictionary.com]

  stature and fibular hypoplasia Gay Feinmesser Cohen syndrome Lipoic acid synthetase deficiency Saito Kuba Tsuruta syndrome PARC syndrome Bone dysplasia lethal Holmgren type Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome [checkrare.com]

  […] tibiae and radii with short stature and auto- soma1 dominant inheritance. [docslide.us]

• Dysostosis

  […] autosomal recessive * Acrofacial dysostosis Catania form * Acrofacial dysostosis postaxial, atypical Prevention - Thumb absence hypoplastic halluces Not supplied. [checkorphan.org]

  Acrodysostosis Acrodysostosis with multiple hormone resistance Acrodysplasia scoliosis Acrofacial dysostosis Acrofacial dysostosis, Catania type Acrofacial dysostosis, Kennedy-Teebi type Acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Rodríguez [se-atlas.de]

  Epidermolytic palmoplantar keratoderma Chanarin-Dorfman syndrome Native American myopathy Wildervanck syndrome Riboflavin transporter deficiency Multiple sulfatase deficiency Progeroid short stature with pigmented nevi Michels Caskey syndrome Acrofacial dysostosis [checkrare.com]

  Scand J Plast Reconstr Surg Hand Surg 1981;(suppl 18)1-198 Atkinson FRB: Heredity, craniofacial dysostosis, or Crouzon disease. [karger.com]

  Unlike the patients described by Mononen et al. our patients have a dysostosis. REFERENCES Bell J (1951): On brachydactyly and symphalangism. In Penrose LS (edf: Treasury of Human Inheritance. London: Cambridge Uni- versity Press, Val 5, pp 1-31. [docslide.com.br]

• Short Finger

  Overview A rare syndrome characterized mainly by missing thumbs and underdeveloped big toes Symptoms - Thumb absence hypoplastic halluces * Missing thumb * Short fingers * Underdeveloped thumb * Irregular finger length * Irregular finger shape Causes [checkorphan.org]

  […] outermost finger bone 0009882 Short hallux Short big toe 0010109 Short metacarpal Shortened long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short thumb Short thumbs Small thumbs [ more ] 0009778 Showing of 8 | Last updated: [rarediseases.info.nih.gov]

  There were short first metacarpals and hypoplastic phalanges of the thumb and index finger with incomplete syndactyly. [bhj.org.in]

  Short finger Thin upper lip vermilion Poor speech Thick vermilion border Feeding difficulties Prominent nasal bridge Broad palm Abnormal corpus callosum morphology Cryptorchidism Ventricular septal defect Wide nasal bridge Short foot Abnormal cardiac [mendelian.co]

• Asymptomatic

  Normal values for these angles were established from a control group of asymptomatic feet and from previously published reviews. [readbyqxmd.com]

• Nausea

  Gas (flatulence), indigestion, nausea, sore throat, diarrhea, colds, headaches, toothaches, cramps, cancer, arthritis, muscle pain, and skin conditions. What is Spearmint? Syndromes DO NOT remove a dressing if it becomes soaked with blood. [waittfoundation.org]

• Brachydactyly

  Brachydactyly-preaxial hallux varus syndrome Other names Christian brachydactyly Radiographs and pictures of the hands and feet of individuals with Brachydactyly-preaxial hallux varus syndrome.[1] Specialty Medical genetics Symptoms Minor physical anomalies [en.wikipedia.org]

  More Symptoms of Brachydactyly preaxial with hallux varus and thumb abduction » Similar Topic Articles Brachydactyly Preaxial brachydactyly Hallux varus Thumb abduction Names and Terminology References Source: GARD (NIH): rarediseases.info.nih.gov/ diseases [familydiagnosis.com]

  MalaCards based summary : Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction, also known as brachydactyly preaxial with hallux varus and thumb abduction, is related to brachydactyly. [malacards.org]

  They were diagnosed as having Christian brachydactyly (dominant preaxial brachydactyly) syndrome. Differential diagnosis included: Oto- palatal-digital syndrome, pseudohy- poparathyroidism, diastrophic dys- plasia, and Rubinstein-Taybi syn- drome. [myslide.es]

  In 1992 Mononen et al. described a skeletal dysplasia associated with a unique brachydactyly. [docslide.com.br]

• Thumb Hypoplasia

  Note absent thumb and trapezium, and hypoplastic scaphoid Fig. 6.57. Isolated thumb hypoplasia in a 1-month-old baby boy. There is thumb hypoplasia, with major involvement of the 1st metacarpal. [rrnursingschool.biz]

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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

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]

[…] the hands and feet of individuals with Brachydactyly-preaxial hallux varus syndrome.[1] Specialty Medical genetics Symptoms Minor physical anomalies alongside intellectual disability Diagnostic method Physical examination, radiography Prevention none Prognosis [en.wikipedia.org]

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]

PMID: 8829034 Prognosis Flora M, Diniz P, Neto AL, Teixeira N, Carvalho P, Pinto FG J Foot Ankle Surg 2018 Jan - Feb;57(1):205-209. Epub 2017 Nov 3 doi: 10.1053/j.jfas.2017.08.003. [ncbi.nlm.nih.gov]

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]

Abnormality of limbs Hallux varus Hitchhiker thumb Short distal phalanx of finger Short hallux Short metacarpal Short thumb Abnormality of the musculoskeletal system Short metatarsal Etiology Foot Ankle Int 2011 Aug;32(8):764-73. doi: 10.3113/FAI.2011.0764 [ncbi.nlm.nih.gov]

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]

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]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

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]

[…] and pictures of the hands and feet of individuals with Brachydactyly-preaxial hallux varus syndrome.[1] Specialty Medical genetics Symptoms Minor physical anomalies alongside intellectual disability Diagnostic method Physical examination, radiography Prevention [en.wikipedia.org]

[…] 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]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]