U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ulnar deviation of the wrist

MedGen UID:
115906
Concept ID:
C0231678
Sign or Symptom
Synonyms: Ulnar deviation of the wrists; Ulnar deviation of wrists; Ulnar wrist deviation
SNOMED CT: Ulnar deviation of the wrist (43689004)
 
HPO: HP:0003049

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Ulnar deviation of the wrist

Conditions with this feature

Mucopolysaccharidosis, MPS-IV-A
MedGen UID:
43375
Concept ID:
C0086651
Disease or Syndrome
The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a severe and rapidly progressive early-onset form to a slowly progressive later-onset form. Children with MPS IVA typically have no distinctive clinical findings at birth. The severe form is usually apparent between ages one and three years, often first manifesting as kyphoscoliosis, genu valgum (knock-knee), and pectus carinatum; the slowly progressive form may not become evident until late childhood or adolescence, often first manifesting as hip problems (pain, stiffness, and Legg Perthes disease). Progressive bone and joint involvement leads to short stature, and eventually to disabling pain and arthritis. Involvement of other organ systems can lead to significant morbidity, including respiratory compromise, obstructive sleep apnea, valvular heart disease, hearing impairment, visual impairment from corneal clouding, dental abnormalities, and hepatomegaly. Compression of the spinal cord is a common complication that results in neurologic impairment. Children with MPS IVA have normal intellectual abilities at the outset of the disease.
Mucopolysaccharidosis, MPS-IV-B
MedGen UID:
43376
Concept ID:
C0086652
Disease or Syndrome
GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.
Farber lipogranulomatosis
MedGen UID:
78654
Concept ID:
C0268255
Disease or Syndrome
The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.
Bohring-Opitz syndrome
MedGen UID:
208678
Concept ID:
C0796232
Disease or Syndrome
Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid nevus flammeus (simplex), prominent globes, widely set eyes, palate anomalies, and micrognathia. The BOS posture, which is most striking in early childhood and often becomes less apparent with age, is characterized by flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints. Feeding difficulties in early childhood, including cyclic vomiting, have a significant impact on overall health; feeding tends to improve with age. Seizures are common and typically responsive to standard epileptic medications. Minor cardiac anomalies and transient bradycardia and apnea may be present. Affected individuals may experience recurrent infections, which also tend to improve with age. Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population, but large-scale epidemiologic studies have not been conducted.
Spondyloepimetaphyseal dysplasia, Krakow type
MedGen UID:
1648323
Concept ID:
C4748455
Disease or Syndrome
Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).
Distal arthrogryposis type 2B1
MedGen UID:
1676961
Concept ID:
C5193014
Disease or Syndrome
Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features (Bamshad et al., 1996). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Arthrogryposis, distal, type 2B2
MedGen UID:
1674500
Concept ID:
C5193097
Disease or Syndrome
Distal arthrogryposis type 2B2 (DA2B2) is characterized by congenital contractures of the distal limb joints and facial dysmorphism. Marked inter- and intrafamilial variability has been reported (summary by Daly et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see 108120.
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
MedGen UID:
1684725
Concept ID:
C5231416
Disease or Syndrome
Ventriculomegaly and arthrogryposis
MedGen UID:
1794183
Concept ID:
C5561973
Disease or Syndrome
Ventriculomegaly and arthrogryposis (VENARG) is a severe autosomal recessive congenital disorder characterized by the onset of features in utero that are not compatible with life. Affected pregnancies are terminated spontaneously or by plan due to the severity of the defects. Prenatal ultrasound and autopsy show limb contractures consistent with arthrogryposis and enlarged brain ventricles that may be associated with hydrocephalus, abnormalities of the corpus callosum, and cerebellar hypoplasia. Some affected fetuses may also have congenital heart disease and hydrops fetalis (summary by Mero et al., 2017 and El-Dessouky et al., 2020).

Professional guidelines

PubMed

Sebastin SJ, Chung KC
J Pediatr Rehabil Med 2011;4(2):119-30. doi: 10.3233/PRM-2011-0169. PMID: 21955970

Recent clinical studies

Etiology

Henrichon SS, Foster BH, Shaw C, Bayne CO, Szabo RM, Chaudhari AJ, Boutin RD
Skeletal Radiol 2020 Feb;49(2):241-248. Epub 2019 Jul 9 doi: 10.1007/s00256-019-03266-1. PMID: 31289900Free PMC Article
Kaufmann R, Pfaeffle J, Blankenhorn B, Stabile K, Robertson D, Goitz R
J Hand Surg Am 2005 Sep;30(5):937-42. doi: 10.1016/j.jhsa.2005.05.016. PMID: 16182048
Stieber JR, Dormans JP
J Am Acad Orthop Surg 2005 Mar-Apr;13(2):110-20. doi: 10.5435/00124635-200503000-00004. PMID: 15850368
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Diagnosis

Fu J, Zhang H, Wei K, Shi C, Zong W
J Healthc Eng 2022;2022:9688441. Epub 2022 Jun 16 doi: 10.1155/2022/9688441. PMID: 35756094Free PMC Article
Muppavarapu RC, Capo JT
Hand Clin 2015 Aug;31(3):399-408. doi: 10.1016/j.hcl.2015.04.002. PMID: 26205701
Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE
Am J Med Genet A 2011 Apr;155A(4):706-16. Epub 2011 Mar 15 doi: 10.1002/ajmg.a.33884. PMID: 21438134Free PMC Article
Yinusa W, Owoola AM, Esin IA
Niger J Clin Pract 2010 Jun;13(2):218-22. PMID: 20499760
Johnson J, Omer GE Jr
Hand Clin 1985 Aug;1(3):499-510. PMID: 3913674

Therapy

Haque S, Khan AA
J Hum Ergol (Tokyo) 2009 Jun;38(1):1-9. PMID: 20034313
Marklin RW, Simoneau GG, Monroe JF
Hum Factors 1999 Dec;41(4):559-69. doi: 10.1518/001872099779656770. PMID: 10774127
Snook SH, Vaillancourt DR, Ciriello VM, Webster BS
Am Ind Hyg Assoc J 1997 Jul;58(7):509-17. doi: 10.1080/15428119791012603. PMID: 9208467
Chiang IM, Chen TH, Shih LY, Lo WH
Zhonghua Yi Xue Za Zhi (Taipei) 1995 Nov;56(5):331-7. PMID: 8605648

Prognosis

Fischli S, Sellens RW, Beek M, Pichora DR
J Biomech 2009 Jun 19;42(9):1363-6. Epub 2009 May 5 doi: 10.1016/j.jbiomech.2009.03.008. PMID: 19406404
Cohen MS, Kozin SH
J Hand Surg Am 2001 Jan;26(1):94-104. doi: 10.1053/jhsu.2001.20160. PMID: 11172374
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237
Fogel GR, McElfresh EC, Peterson HA, Wicklund PT
J Bone Joint Surg Am 1984 Jun;66(5):670-80. PMID: 6725315
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Clinical prediction guides

Henrichon SS, Foster BH, Shaw C, Bayne CO, Szabo RM, Chaudhari AJ, Boutin RD
Skeletal Radiol 2020 Feb;49(2):241-248. Epub 2019 Jul 9 doi: 10.1007/s00256-019-03266-1. PMID: 31289900Free PMC Article
Dianat I, Asadollahi S, Nedaei M
Work 2017;57(4):529-534. doi: 10.3233/WOR-172583. PMID: 28826197
Fischli S, Sellens RW, Beek M, Pichora DR
J Biomech 2009 Jun 19;42(9):1363-6. Epub 2009 May 5 doi: 10.1016/j.jbiomech.2009.03.008. PMID: 19406404
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...