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Orphanet Journal of Rare Diseases Jun 2008Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations... (Review)
Review
Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. Diagnosis is clinical, anthropometric and radiological. Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. Molecular studies of chorionic villus samples at 11 weeks of gestation and by amniocentesis after the 14th week of gestation can provide antenatal diagnosis if the causative mutation in the family is known. The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. There is no specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. Physical therapy and ergotherapy may ameliorate hand function. Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies.
Topics: Child, Preschool; Fingers; Foot; Foot Deformities, Congenital; Hand; Hand Deformities, Congenital; Humans; Infant; Pedigree; Radiography; Toes
PubMed: 18554391
DOI: 10.1186/1750-1172-3-15 -
Hand Clinics May 2009Brachydactyly simply means "short finger", but it has a clinical spectrum ranging from minor digital hypoplasia to complete aplasia. The index and small fingers are the... (Review)
Review
Brachydactyly simply means "short finger", but it has a clinical spectrum ranging from minor digital hypoplasia to complete aplasia. The index and small fingers are the most commonly affected digits, and the middle phalanx is the most commonly affected bone. Presentation of brachydactyly is highly variable-a digit may be just slightly shorter because of reduced growth of one phalanx or the metacarpal, or there may be complete absence of one or more phalanges, or there may be complete aplasia of the digit or multiple digits. This article discusses the results of conventional reconstruction using nonvascularized toe phalangeal bone grafting and distraction lengthening and the newer technique of microsurgical toe-to-hand transfers.
Topics: Child; Fingers; Humans; Microsurgery; Osteogenesis, Distraction; Toes
PubMed: 19380063
DOI: 10.1016/j.hcl.2009.02.003 -
Mayo Clinic Proceedings Sep 2021
Topics: Adult; Brachydactyly; Female; Fingers; Humans; Metatarsal Bones; Pseudohypoparathyroidism
PubMed: 34481595
DOI: 10.1016/j.mayocp.2021.05.009 -
Bone Jun 2019We report the case of a young woman who presented at age 10 years with height on the tenth centile, brachydactyly type E and mild developmental delay. Biochemistry and... (Review)
Review
We report the case of a young woman who presented at age 10 years with height on the tenth centile, brachydactyly type E and mild developmental delay. Biochemistry and hormonal profiles were normal. Differential diagnoses considered included Albright hereditary osteodystrophy without hormone resistance (a.k.a pseudopseudohypoparathyroidism), 2q37 microdeletion syndrome and acrodysostosis. She had a normal karyotype and normal FISH of 2q37. Whole genome sequencing (WGS) identified a mutation in the ANKRD11 gene associated with KBG syndrome. We review the clinical features of the genetic syndromes considered, and suggest KBG syndrome be considered in patients presenting with syndromic brachydactyly type E, especially if short stature and developmental delay are also present.
Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Brachydactyly; Facies; Female; Humans; Intellectual Disability; Karyotype; Mutation; Repressor Proteins; Tooth Abnormalities; Whole Genome Sequencing
PubMed: 30877071
DOI: 10.1016/j.bone.2019.03.012 -
Yi Chuan = Hereditas Dec 2019Brachydactyly (BD) is a type of hand/foot malformation caused by the abnormal shortening or missing phalanges and/or metacarpals/metatarsals. BD most often occurs as an... (Review)
Review
Brachydactyly (BD) is a type of hand/foot malformation caused by the abnormal shortening or missing phalanges and/or metacarpals/metatarsals. BD most often occurs as an isolated trait, but can also occur as part of complex malformation syndromes. According to the patterns of affected digits, isolated BD can be divided into five groups: BDA, BDB, BDC, BDD, and BDE with individual subtypes. As an important molecular disease family, the pathogenic genes and molecular mechanisms of most isolated BD forms and some complicated syndromes are elucidated. Although BDs are highly diversified in phenotypes, at the molecular levels these pathogenic genes mainly affect several important signaling pathways: Hedgehog, NOTCH, WNT and BMP. These pathways form a complex signaling network and play different roles in different stages of the digit and joint development, in which BMP signaling pathway occupies a central position. Based on the current classification of BDs, this review summarizes the latest progress in the pathogenesis of BDs and the signaling pathways involved. The purpose of this review is to explore the molecular mechanisms of digit formation, which will provide references for the clinical diagnosis of BD, and the understanding of molecular mechanism of human bone development.
Topics: Body Patterning; Brachydactyly; Embryonic Development; Humans; Phenotype
PubMed: 31857279
DOI: 10.16288/j.yczz.19-100 -
Orphanet Journal of Rare Diseases Sep 2013Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an... (Review)
Review
Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental retardation (BDMR) or BDE with short stature, PTHLH type. Each syndrome has characteristic patterns of skeletal involvement. However, brachydactyly is not a constant feature and shows a high degree of phenotypic variability. In addition, there are other syndromes that can be misdiagnosed as brachydactyly type E, some of which will also be discussed. The objective of this review is to describe some of the syndromes in which BDE is present, focusing on clinical, biochemical and genetic characteristics as features of differential diagnoses, with the aim of establishing an algorithm for their differential diagnosis. As in our experience many of these patients are recruited at Endocrinology and/or Pediatric Endocrinology Services due to their short stature, we have focused the algorithm in those steps that could mainly help these professionals.
Topics: Brachydactyly; Diagnosis, Differential; Humans
PubMed: 24028571
DOI: 10.1186/1750-1172-8-141 -
The Hand Jun 1978
Topics: Adolescent; Adult; Child; Classification; Female; Fingers; Hand; Humans; Infant; Male; Pedigree; Radiography
PubMed: 711003
DOI: 10.1016/s0072-968x(78)80013-8 -
The Journal of Hand Surgery, European... Nov 2014Isolated familial non-syndromic brachydactyly is interesting from the embryological point of view because the phenotypes of isolated brachydactyly are frequently... (Review)
Review
Isolated familial non-syndromic brachydactyly is interesting from the embryological point of view because the phenotypes of isolated brachydactyly are frequently overlapping, yet they are caused by different gene mutations and the ring finger is frequently relatively preserved. We review the embryology of isolated familial brachydactyly with special attention to these two features.
Topics: Brachydactyly; DNA Mutational Analysis; Female; Fingers; Gestational Age; Growth Differentiation Factor 5; Hand Deformities, Congenital; Homeodomain Proteins; Humans; Infant, Newborn; Phenotype; Pregnancy; Radiography; Transcription Factors
PubMed: 24300509
DOI: 10.1177/1753193413514363 -
Ryoikibetsu Shokogun Shirizu 2001
Review
Topics: Coloboma; Female; Fingers; Humans; Macula Lutea; Male; Retinal Diseases; Syndrome
PubMed: 11528654
DOI: No ID Found -
ANZ Journal of Surgery Nov 2020
Topics: Brachydactyly; Finger Phalanges; Fingers; Hand; Humans; Nails, Malformed
PubMed: 32068944
DOI: 10.1111/ans.15752