Presentation
Congenital deformities of the lower limbs are the developmental disorders which are present at birth and cause alteration in the shape and appearance of the legs. The exact cause for this is not known. [limblengthening.com.au]
Congenital Hand Deformities Congenital hand deformities are deformities of the hand or any part of hand that are present at birth. These deformities can be particularly disabling as the hands are important for the child for its interaction. [michaelbellemore.com]
Case Report: We present a rare case of 4 year old female child who presented to our department with the absence of distal humerus, elbow joint, forearm and hand since birth. [casereports.in]
Abstract The classification for congenital limb malformations adopted by the American Society for Surgery of the Hand, the International Federation of Societies for Surgery of the Hand, and the International Society of Prosthetics and Orthotics is presented [ncbi.nlm.nih.gov]
Limb deformity or leg length discrepancy can be present from birth (congenital) or acquired (a result of an injury, infection or tumor). [cincinnatichildrens.org]
Entire Body System
- Multiple Congenital Anomalies
In other populations, it is more often associated with a syndrome of multiple congenital anomalies or chromosomal defects. [merckmanuals.com]
Figure 2 Time trends for non-syndromic congenital limb defects (isolated and MCA) for the period 1992–2010. MCA–multiple congenital anomalies. [bmcmusculoskeletdisord.biomedcentral.com]
congenital anomalies-hypotonia-seizures syndrome Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia [se-atlas.de]
congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS 759.8 Other specified anomalies 759.81 Prader-Willi syndrome 759.82 Marfan syndrome 759.83 Fragile X syndrome 759.89 Other Congenital malformation syndromes [theodora.com]
- Anemia
[…] other congenital disorders, including Adams-Oliver syndrome (aplasia cutis congenita with partial aplasia of the skull bones and terminal transverse limb malformations), Holt-Oram syndrome, TAR ( t hrombocytopenia- a bsent r adius) syndrome, Fanconi anemia [merckmanuals.com]
[…] syndrome Cataract-intellectual disability-hypogonadism syndrome Cataract-nephropathy-encephalopathy syndrome Catel-Manzke syndrome Caudal appendage-deafness syndrome Cenani-Lenz syndrome Central nervous system calcification-deafness-tubular acidosis-anemia [se-atlas.de]
Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Pediatrics, 76 ,794-800. Bouwes Bavinck, J. N., Weaver, D. D. (1986). [oandplibrary.org]
- Trisomy 21
There are a few well recognised syndromes associated with autosomal trisomies - Down's syndrome (Trisomy 21), Edward's syndrome (Trisomy 18) and Patau's syndrome (Trisomy 13). [oandplibrary.org]
21 or 22 G 758.1 Patau's syndrome Trisomy: 13 D1 758.2 Edward's syndrome Trisomy: 18 E3 758.3 Autosomal deletion syndromes 758.31 Cri-du-chat syndrome Deletion 5p 758.32 Velo-cardio-facial syndrome Deletion 22q11.2 758.33 Other microdeletions Miller-Dieker [theodora.com]
UL = 1 Syndactyly: UL = 7, LL = 8 Other CLD LL = 1 (shortening toes) Trisomy 21, Down 6 Polydactyly Preax. LL = 1 Syndactyly: UL = 2, LL = 3 Trisomy 13, translocation 3 Polydactyly: Postax. [bmcmusculoskeletdisord.biomedcentral.com]
Musculoskeletal
- Brachydactyly
[…] type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow [se-atlas.de]
Type V- Undergrowth Undergrowth or brachydactyly is the condition of underdevelopment of fingers or thumbs and may present with small digit which may be because of missing muscles, underdeveloped or missing bones, and complete absence of a digit. [michaelbellemore.com]
(b) Osseous syndactyly - fusion of the bones-synostosis) Brachydactyly, is the shortness of the digits due to the reduction in the length of the phalanges. [skeletalsystemdev.weebly.com]
Anomalies such as duplication, Polydactyly, brachydactyly, syndactyly and the pterygium syndromes are not discussed, neither are skeletal dysplasias. We have concentrated on conditions presenting as limb reduction or deficiency. [oandplibrary.org]
Children with only minor CLD, such as clinodactyly, camptodactyly, brachydactyly of the fourth and fifth fingers, trigger finger, syndactyly of the second and third toes, sandal gap, and short big toe were not included, because EUROCAT does not register [bmcmusculoskeletdisord.biomedcentral.com]
- Hand Deformity
Congenital Hand Deformities Congenital hand deformities are deformities of the hand or any part of hand that are present at birth. These deformities can be particularly disabling as the hands are important for the child for its interaction. [michaelbellemore.com]
Roswell Park described a case of congenital absence of radius with a club hand deformity for which operative procedure was done with acceptable results [ 9 ]. [casereports.in]
In Patau's syndrome the characteristic hand deformity is post-axial Polydactyly, absence of the radial rays although the radius is sometimes present. [oandplibrary.org]
J Hand Surg Am. 2013;38(9):1845-53. https://doi.org/10.1016/j.jhsa.2013.03.019 [ Links ] 18. Laub Jr DR, Hentz VR, Ladd AL. Congenital hand deformities. En: Plastic surgery: indications, operations and outcomes. 2nd ed. [scielo.org.co]
SPILT HAND AND FOOT SYNDROME The term ‘split hand and foot’ syndrome refers to a group of disorders characterized by splitting of the hand and foot into two parts; other terms include lobster-claw deformity and ectrodactyly. [sonoworld.com]
- Thumb Hypoplasia
Thumb hypoplasia. Eplasty. 2015;15:ic62. [ Links ] 62. James MA, McCarroll Jr HR, Manske PR. Characteristics of patients with hypoplastic thumbs. J Hand Surg Am. 1996;21(1):104-13. [ Links ] 63. Blauth W. The hypoplastic thumb. [scielo.org.co]
Radial clubhand includes a wide spectrum of disorders that encompass absent thumb, thumb hypoplasia, thin first metacarpal and absent radius. [sonoworld.com]
Treatment
For What Conditions TSF treatment is used? TSF can be used for the treatment of congenital condition a term used to describe any condition that is present at birth. [chennaimedtour.com]
We will also inform you of all treatment options available and why we recommend one treatment over another. [texaschildrens.org]
If you have a child with a congenital limb deformity or deficiency, please reach out to us and ask about our treatment plans. It might be the most worthwhile call you ever made. [ortho-institute.org]
The initial treatment for clubfoot is the use of non-surgical methods, preferably begun in the first week of life. [limblengthening.com.au]
Treatment goals can vary for each child. [stanfordchildrens.org]
Prognosis
Prognosis A congenital limb deficiency has a profound effect on the life of the child and his or her parents. [healthofchildren.com]
Prognosis A congenital limb deficiency has a profound effect on the life of the child and parents. However, occupational therapy can help the child learn to accomplish many tasks. [medical-dictionary.thefreedictionary.com]
There is a variable phenotypic expression and, consequently, the prognosis varies from neonatal death, due to pulmonary hypoplasia, to normal survival. [sonoworld.com]
Etiology
With transverse or longitudinal deficiency, depending on the etiology, infants may also have hypoplastic or bifid bones, synostoses, duplications, dislocations, or other bony defects; for example, in proximal femoral focal deficiency, the proximal femur [merckmanuals.com]
Etiology Medications known to affect limb development include thalidomide, retinoic acid, and misoprostol. [now.aapmr.org]
Congenital upper extremity differences: Understanding the etiology and treatment. A Pediatric Perspective 2001;10:1-4. F rantz CH, O’Rahilly R. Congenital skeletal limb deficiencies. J Bone Joint Surg Am.1961;43:1202-1224. S wanson AB. [casereports.in]
Congenital hand anomalies: etiology, classification, and treatment. J Craniofac Surg. 2014;25(1):284-94. [ Links ] 13. Dy CJ, Swarup I, Daluiski A. Embryology, diagnosis, and evaluation of congenital hand anomalies. [scielo.org.co]
References The Journal of Trauma, “Pediatric amputation injuries: etiology, cost and outcome,” by Trautwein LC, Smith DG, Rivara FP. 1996; 41:831-838. [amputee-coalition.org]
Epidemiology
Therefore, the aim of this study is to describe the epidemiology of CLD in a population-based study in the northern Netherlands for the period 1981–2010. [bmcmusculoskeletdisord.biomedcentral.com]
Epidemiology. 1997;8: 157-61. Rosano A, Botto LD, Olney RS, Khoury MJ, Ritvanen A, Goujard J, et al. [cdc.gov]
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. [scielo.org.co]
Limb amputation and limb deficiency: epidemiology and recent trends in the US. South Med J. 2002;95:875-883. Canfield MA, Honein MA, Yuskiv N, et al. [now.aapmr.org]
Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. J. Med. Genet., 27, 353-357. Donnai, D., Hughes, H. E., Winter, R. M. (1987). Postaxial acrofacial dysostosis (Miller) syndrome. J. [oandplibrary.org]
Prevention
There is no known way to prevent this type of defect, but some of the problems experienced later in life by a person born with a limb reduction defect can be prevented if the defect is treated early. [cdc.gov]
Prevention There is no known way to prevent congenital amputations, but the prevention of birth defects in general begins with the well being of the mother before and during pregnancy. [healthofchildren.com]
Prevention Studies have suggested that a multivitamin including folic acid may reduce birth defects, including congenital abnormalities. [medical-dictionary.thefreedictionary.com]
Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study. Occup Environ Med. 2012;69:534-542. Herring JA, Birch JG, eds. The Child With a Limb Deficiency. 1st ed. [now.aapmr.org]
Early correction of the deformities allows for normal development and function of hand and prevents the development of permanent deformities. [michaelbellemore.com]