Congenital limb deformities

Congenital limb deformities

Congenital limb deformities are congenital musculoskeletal disorders which primarily affect the upper and lower limbs.

An example is polydactyly, where a foot or hand has more than 5 digits.

Clubfoot, one of the most common congenital deformities of the lower limbs, occurs approximately 1 in 1000 births. It can be treated by physical therapy, or by a combination of physical therapy and surgery.^[1]

One class of congenital limb deformities, limb reduction defects, occurs when one or more limbs are undersized or missing parts. The prevalence of these defects in the United States is approximately 1 in 1900 births.^[2] This category includes amelia, ectrodactyly, radial dysplasia, and phocomelia among others. These defects are more likely to be unilateral than bilateral, more likely to affect the upper limbs than lower limbs, and are associated with complex genetic syndromes about 10% of the time.^[3]

A wide variety of abnormalities of the hands and feet, including the nails and the creases of the hand, have been described and differentiated.^[4] Many of these abnormalities do not have an impact on function but may be useful in diagnosing genetic syndromes; for example, the single transverse palmar crease is commonly associated with Down syndrome.

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^ Dobbs, Matthew B.; Gurnett, Christina A. (18 February 2009). "Update on clubfoot: etiology and treatment". Clinical Orthopaedics and Related Research. 467 (5): 1146–1153. doi:10.1007/s11999-009-0734-9. ISSN 1528-1132. PMC 2664438. PMID 19224303.
^ "Facts about Upper and Lower Limb Reduction Defects". Center for Disease Control and Prevention. October 26, 2020. Retrieved March 18, 2021.
^ "Chapter 4.9b: Congenital Malformations and Deformations of the Musculoskeletal System: Limb Reduction Defects/Limb Deficiencies". Birth Defects Surveillance: A Manual for Programme Managers. Center for Disease Control and Prevention. November 27, 2020. Retrieved March 18, 2021.
^ Biesecker, Leslie G.; Aase, John M.; Clericuzio, Carol; Gurrieri, Fiorella; Temple, I. Karen; Toriello, Helga (2009). "Elements of morphology: Standard terminology for the hands and feet". Am. J. Med. Genet. A. 149A (1): 93–127. doi:10.1002/ajmg.a.32596. PMC 3224990. PMID 19125433.

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality

Appendicular
limb / dysmelia

Arms

clavicle / shoulder	Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome
hand deformity	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

Leg

hip	Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara
knee	Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation
foot deformity	varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe

Either / both

fingers and toes	Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb
reduction deficits / limb	Acheiropodia Ectromelia Phocomelia Amelia Hemimelia
multiple joints	Arthrogryposis Larsen syndrome RAPADILINO syndrome

Axial

Skull and face

Craniosynostosis	Scaphocephaly Oxycephaly Trigonocephaly
Craniofacial dysostosis	Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Oto-palato-digital syndrome Treacher Collins syndrome
other	Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose

Vertebral column

Thoracic skeleton

ribs:	Cervical Bifid
sternum:	Pectus excavatum Pectus carinatum
other:	Poland syndrome

v t e Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactyly Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Moebius syndrome Pierre Robin sequence
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Bannayan–Riley–Ruvalcaba syndrome Beckwith–Wiedemann syndrome Benign symmetric lipomatosis Klippel–Trénaunay syndrome Neurofibromatosis type I Perlman syndrome Proteus syndrome Sotos syndrome Tatton-Brown–Rahman syndrome Weaver syndrome
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome

This page was last edited on 21 November 2023, at 05:06

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