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Wrist flexion contracture

MedGen UID:
592338
Concept ID:
C0409345
Acquired Abnormality
Synonyms: Flexion contractures of the wrists; Flexion contractures of wrists; Wrist flexion deformity
SNOMED CT: Flexion contracture - wrist (202275008); Flexion contracture of wrist (202275008)
 
HPO: HP:0001239

Definition

A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. [from HPO]

Conditions with this feature

Congenital contractural arachnodactyly
MedGen UID:
67391
Concept ID:
C0220668
Congenital Abnormality
Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families.
Freeman-Sheldon syndrome
MedGen UID:
120516
Concept ID:
C0265224
Disease or Syndrome
Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Roberts-SC phocomelia syndrome
MedGen UID:
95931
Concept ID:
C0392475
Disease or Syndrome
ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.
X-linked intellectual disability-psychosis-macroorchidism syndrome
MedGen UID:
163232
Concept ID:
C0796222
Disease or Syndrome
The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.
Fetal akinesia deformation sequence 1
MedGen UID:
220903
Concept ID:
C1276035
Disease or Syndrome
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).
Al-Gazali syndrome
MedGen UID:
373020
Concept ID:
C1836121
Disease or Syndrome
Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality (summary by Ben-Mahmoud et al., 2018).
Pelviscapular dysplasia
MedGen UID:
342400
Concept ID:
C1850040
Disease or Syndrome
Syndrome with characteristics of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. The facial dysmorphism has manifestations of frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly. Mutations in the TBX15 gene have been identified as potentially causative. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia.
Multicentric osteolysis nodulosis arthropathy spectrum
MedGen UID:
342428
Concept ID:
C1850155
Disease or Syndrome
Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years).
Cerebrooculofacioskeletal syndrome 4
MedGen UID:
342798
Concept ID:
C1853100
Disease or Syndrome
Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013). For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see 214150.
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
MedGen UID:
349226
Concept ID:
C1859690
Disease or Syndrome
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some patients (summary by Faivre et al., 2000).
Distal arthrogryposis type 10
MedGen UID:
349990
Concept ID:
C1861238
Disease or Syndrome
A rare genetic distal arthrogryposis syndrome with characteristics of plantar flexion contractures typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
MedGen UID:
412638
Concept ID:
C2748801
Disease or Syndrome
Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (135700). CFEOM2 (602078) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008). Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3 The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (135700), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (609384), which maps to chromosome 13q.
Geleophysic dysplasia 1
MedGen UID:
479777
Concept ID:
C3278147
Disease or Syndrome
Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. Major findings are likely to be present in the first year of life. Cardiac, respiratory, and lung involvement result in death before age five years in approximately 33% of individuals with ADAMTSL2-related geleophysic dysplasia.
Lethal congenital contracture syndrome 9
MedGen UID:
903881
Concept ID:
C4225303
Disease or Syndrome
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.
Frontometaphyseal dysplasia 1
MedGen UID:
923943
Concept ID:
C4281559
Congenital Abnormality
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
Schwartz-Jampel syndrome type 1
MedGen UID:
1647990
Concept ID:
C4551479
Disease or Syndrome
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).
Warburg-cinotti syndrome
MedGen UID:
1677486
Concept ID:
C5193019
Disease or Syndrome
Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis (Xu et al., 2018).
Neuromuscular disease and ocular or auditory anomalies with or without seizures
MedGen UID:
1684689
Concept ID:
C5231483
Disease or Syndrome
Arthrogryposis, distal, type 1C
MedGen UID:
1722257
Concept ID:
C5436834
Disease or Syndrome
Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed (Chong et al., 2020).
Charcot-Marie-Tooth disease, axonal, type 2FF
MedGen UID:
1794191
Concept ID:
C5561981
Disease or Syndrome
Charcot-Marie-Tooth disease type 2FF (CMT2FF) is an autosomal dominant progressive axonal sensorimotor peripheral neuropathy characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Most patients have foot and ankle deformities, requiring surgery or walking aids. Some patients lose independent ambulation. There is also prominent involvement of the upper limbs, with weakness and atrophy of the forearm, wrist, and intrinsic hand muscles. Proximal muscle function is preserved. Affected individuals have variable distal sensory impairment. Most patients have hyporeflexia, although brisk reflexes, suggesting upper motor involvement, have been described in 1 family. Sural nerve biopsy showed abnormal myelination (Rebelo et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).
Charcot-Marie-Tooth disease axonal type 2X
MedGen UID:
1800447
Concept ID:
C5569024
Disease or Syndrome
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016) For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Nemaline myopathy 5B, autosomal recessive, childhood-onset
MedGen UID:
1841181
Concept ID:
C5830545
Disease or Syndrome
Autosomal recessive childhood-onset nemaline myopathy-5B (NEM5B) is a skeletal muscle disorder in which patients usually present with proximal muscle weakness of the lower and upper limbs in a limb-girdle distribution, resulting in gait abnormalities; however, most remain ambulatory even into late adulthood. Some affected individuals show delayed motor development. There is axial weakness and atrophy of the paraspinal muscles, along with kyphosis, scoliosis, and rigid spine, as well as variable limitations of the large joints. Most patients develop restrictive respiratory insufficiency with decreased forced vital capacity; some need noninvasive ventilation. Serum creatine kinase may be elevated. Muscle biopsy can show variable features, including nemaline rods, multiminicore lesions, endomysial fibrosis, and myofibrillar changes (Pellerin et al., 2020; Lee et al., 2022). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).

Professional guidelines

PubMed

Sebastin SJ, Chung KC
J Pediatr Rehabil Med 2011;4(2):119-30. doi: 10.3233/PRM-2011-0169. PMID: 21955970
Bayne LG
Clin Orthop Relat Res 1985 Apr;(194):68-73. PMID: 3978937
EISING LM, SOULES B
Calif Med 1964 May;100(5):340-2. PMID: 14143667Free PMC Article

Recent clinical studies

Etiology

Tawonsawatruk T, Prusmetikul S, Kanchanathepsak T, Patathong T, Klaewkasikum K, Woratanarat P, Panuwannakorn M, Vongpipatana S
Hand Surg Rehabil 2022 Apr;41(2):258-264. Epub 2022 Feb 3 doi: 10.1016/j.hansur.2021.12.012. PMID: 35124285
Lestienne V, Oca V, Cornu A, Fontaine C, Allart E, Sturbois-Nachef N
Hand Surg Rehabil 2022 Feb;41(1):48-53. Epub 2021 Nov 6 doi: 10.1016/j.hansur.2021.09.011. PMID: 34752970
Ngoie M, Degez F, Sané-Diatta I, Diamé-Seydi Y, Gueye M, Coulibaly-Ndiaye NF
Hand Surg Rehabil 2020 Sep;39(4):256-260. Epub 2020 Feb 15 doi: 10.1016/j.hansur.2020.02.003. PMID: 32070794
Ho JJ, Wang TM, Shieh JY, Wu KW, Huang SC, Kuo KN
J Pediatr Orthop 2015 Jun;35(4):412-8. doi: 10.1097/BPO.0000000000000276. PMID: 25075892
Burgess RC, Robbe R
J Hand Surg Am 2012 Feb;37(2):322-5. Epub 2011 Dec 3 doi: 10.1016/j.jhsa.2011.10.013. PMID: 22137063

Diagnosis

Ho JJ, Wang TM, Shieh JY, Wu KW, Huang SC, Kuo KN
J Pediatr Orthop 2015 Jun;35(4):412-8. doi: 10.1097/BPO.0000000000000276. PMID: 25075892

Therapy

Tawonsawatruk T, Prusmetikul S, Kanchanathepsak T, Patathong T, Klaewkasikum K, Woratanarat P, Panuwannakorn M, Vongpipatana S
Hand Surg Rehabil 2022 Apr;41(2):258-264. Epub 2022 Feb 3 doi: 10.1016/j.hansur.2021.12.012. PMID: 35124285
El-Kazzi W, Bahm J, Schuind F
Hand Surg 2014;19(2):275-9. doi: 10.1142/S0218810414970041. PMID: 24875519
Hattori Y, Wahegaonkar A, Addosooki A, Doi K
J Hand Surg Eur Vol 2007 Dec;32(6):694-6. Epub 2007 Aug 6 doi: 10.1016/J.JHSE.2007.06.007. PMID: 17993433

Prognosis

Ngoie M, Degez F, Sané-Diatta I, Diamé-Seydi Y, Gueye M, Coulibaly-Ndiaye NF
Hand Surg Rehabil 2020 Sep;39(4):256-260. Epub 2020 Feb 15 doi: 10.1016/j.hansur.2020.02.003. PMID: 32070794
Doucet BM, Mettler JA
J Hand Ther 2013 Apr-Jun;26(2):139-46; quiz 147. Epub 2012 Nov 11 doi: 10.1016/j.jht.2012.10.001. PMID: 23149271Free PMC Article
Burgess RC, Robbe R
J Hand Surg Am 2012 Feb;37(2):322-5. Epub 2011 Dec 3 doi: 10.1016/j.jhsa.2011.10.013. PMID: 22137063

Clinical prediction guides

Tawonsawatruk T, Prusmetikul S, Kanchanathepsak T, Patathong T, Klaewkasikum K, Woratanarat P, Panuwannakorn M, Vongpipatana S
Hand Surg Rehabil 2022 Apr;41(2):258-264. Epub 2022 Feb 3 doi: 10.1016/j.hansur.2021.12.012. PMID: 35124285
Lestienne V, Oca V, Cornu A, Fontaine C, Allart E, Sturbois-Nachef N
Hand Surg Rehabil 2022 Feb;41(1):48-53. Epub 2021 Nov 6 doi: 10.1016/j.hansur.2021.09.011. PMID: 34752970

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