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Multiple joint contractures

MedGen UID:
57633
Concept ID:
C0158118
Acquired Abnormality
Synonym: Contracture of multiple joints
SNOMED CT: Contracture of multiple joints (202264009)
 
HPO: HP:0002828

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple joint contractures

Conditions with this feature

Autosomal recessive multiple pterygium syndrome
MedGen UID:
82696
Concept ID:
C0265261
Congenital Abnormality
Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.
Holoprosencephaly-hypokinesia-congenital contractures syndrome
MedGen UID:
336097
Concept ID:
C1844016
Disease or Syndrome
X-linked microhydranencephaly is a male-lethal disorder characterized by intrauterine growth retardation, extreme microcephaly, and lack of fetal movement on prenatal ultrasound, with death in utero or stillbirth. Autopsy shows limb contractures with talipes equinovarus and hypoplastic lungs and kidneys. Brain findings are consistent with severe holoprosencephaly or near-anencephaly. Obligate carrier females may show a milder phenotype of short stature and microcephaly (Hockey et al., 1988; Carroll et al., 2017). An autosomal recessive form of microhydranencephaly (MHAC; 605013) is caused by mutation in the NDE1 gene (609449).
Infantile-onset X-linked spinal muscular atrophy
MedGen UID:
337123
Concept ID:
C1844934
Disease or Syndrome
X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is significantly shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.
Terminal osseous dysplasia-pigmentary defects syndrome
MedGen UID:
335344
Concept ID:
C1846129
Disease or Syndrome
Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010).
Early-onset generalized limb-onset dystonia
MedGen UID:
338823
Concept ID:
C1851945
Disease or Syndrome
DYT1 early-onset isolated dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing or irregular tremor of a leg or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writing or walking. Over time, the contractions frequently (but not invariably) become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign.
NDE1-related microhydranencephaly
MedGen UID:
341899
Concept ID:
C1857977
Disease or Syndrome
Microhydranencephaly (MHAC) is a severe neurodevelopmental defect characterized by extreme microcephaly, profound motor and mental retardation, spasticity, and incomplete cerebral formation. Radiologic studies show gross dilation of the ventricles resulting from the absence of cerebral hemispheres or severe delay in their development, as well as hypoplasia of the corpus callosum, cerebellum, and brainstem (summary by Guven et al., 2012).
Lethal congenital contracture syndrome 3
MedGen UID:
369555
Concept ID:
C1969655
Disease or Syndrome
Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs.
Lethal congenital contracture syndrome 4
MedGen UID:
766960
Concept ID:
C3554046
Disease or Syndrome
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.
Congenital myasthenic syndrome 15
MedGen UID:
864033
Concept ID:
C4015596
Disease or Syndrome
Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by Cossins et al., 2013). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Myofibrillar myopathy 7
MedGen UID:
934678
Concept ID:
C4310711
Disease or Syndrome
Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Pontocerebellar hypoplasia, type 1D
MedGen UID:
1648387
Concept ID:
C4748058
Disease or Syndrome
Pontocerebellar hypoplasia type 1D (PCH1D) is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).
Glycosylphosphatidylinositol biosynthesis defect 18
MedGen UID:
1648478
Concept ID:
C4748357
Disease or Syndrome
DEE95 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. More variable features may include abnormalities of the hands and feet, inguinal hernia, and feeding difficulties. The disorder is part of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Nguyen et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
MedGen UID:
1648362
Concept ID:
C4749003
Disease or Syndrome
SMALED2B is a severe neuromuscular disorder with onset in utero. Affected individuals show decreased fetal movements and are usually born with congenital contractures consistent with arthrogryposis multiplex congenita (AMC). After birth, they have severe hypotonia and muscle atrophy as well as respiratory insufficiency due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Many patients die in early childhood (summary by Storbeck et al., 2017) For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).
FG syndrome 1
MedGen UID:
1768809
Concept ID:
C5399762
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.

Professional guidelines

PubMed

Cherian L, Rosenberg JJ
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Recent clinical studies

Etiology

Hyer LC, Shull ER, Wagner LV, Westberry DE
J Pediatr Orthop 2024 Mar 1;44(3):197-201. Epub 2023 Dec 6 doi: 10.1097/BPO.0000000000002584. PMID: 38053409
Taqi D, Nematollahi S, Lemin S, Rauch F, Hamdy R, Dahan-Oliel N
Bone 2024 Feb;179:116955. Epub 2023 Nov 10 doi: 10.1016/j.bone.2023.116955. PMID: 37951521
Ververi A, Babatseva E, Mitsiakos G, Karagiannopoulou G, Malakozi M, Patsatsi A, Diamanti E, Garg A
Clin Dysmorphol 2023 Apr 1;32(2):92-94. Epub 2023 Feb 17 doi: 10.1097/MCD.0000000000000453. PMID: 36876346Free PMC Article
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Hall JG
J Pediatr Orthop B 1997 Jul;6(3):159-66. PMID: 9260643

Diagnosis

Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Skaria P, Dahl A, Ahmed A
J Matern Fetal Neonatal Med 2019 Feb;32(3):502-511. Epub 2017 Sep 27 doi: 10.1080/14767058.2017.1381683. PMID: 28954562
Tunçbilek E, Alanay Y
Orphanet J Rare Dis 2006 Jun 1;1:20. doi: 10.1186/1750-1172-1-20. PMID: 16740166Free PMC Article
O'Flaherty P
Neonatal Netw 2001 Jun;20(4):13-20. doi: 10.1891/0730-0832.20.4.13. PMID: 12143898
Chen H, Chang CH, Misra RP, Peters HA, Grijalva NS, Opitz JM
Am J Med Genet 1980;7(2):91-102. doi: 10.1002/ajmg.1320070203. PMID: 7468651

Therapy

Miao M, Cai H, Wang Z, Hu L, Bian J, Cai H
BMC Musculoskelet Disord 2020 Mar 4;21(1):144. doi: 10.1186/s12891-020-3173-0. PMID: 32131798Free PMC Article
Atroshi I, Nordenskjöld J, Lauritzson A, Ahlgren E, Waldau J, Waldén M
Acta Orthop 2015 Jun;86(3):310-5. Epub 2015 Feb 19 doi: 10.3109/17453674.2015.1019782. PMID: 25695745Free PMC Article
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Pediatr Neurol 1995 Apr;12(3):237-41. doi: 10.1016/0887-8994(95)00004-y. PMID: 7619191

Prognosis

Hyer LC, Shull ER, Wagner LV, Westberry DE
J Pediatr Orthop 2024 Mar 1;44(3):197-201. Epub 2023 Dec 6 doi: 10.1097/BPO.0000000000002584. PMID: 38053409
Ververi A, Babatseva E, Mitsiakos G, Karagiannopoulou G, Malakozi M, Patsatsi A, Diamanti E, Garg A
Clin Dysmorphol 2023 Apr 1;32(2):92-94. Epub 2023 Feb 17 doi: 10.1097/MCD.0000000000000453. PMID: 36876346Free PMC Article
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Ravikumar VR, Veerappan Ramamoorthi RG, Manisankar S
Indian J Pathol Microbiol 2019 Apr-Jun;62(2):300-302. doi: 10.4103/IJPM.IJPM_76_17. PMID: 30971561
O'Flaherty P
Neonatal Netw 2001 Jun;20(4):13-20. doi: 10.1891/0730-0832.20.4.13. PMID: 12143898

Clinical prediction guides

Hyer LC, Shull ER, Wagner LV, Westberry DE
J Pediatr Orthop 2024 Mar 1;44(3):197-201. Epub 2023 Dec 6 doi: 10.1097/BPO.0000000000002584. PMID: 38053409
Taqi D, Nematollahi S, Lemin S, Rauch F, Hamdy R, Dahan-Oliel N
Bone 2024 Feb;179:116955. Epub 2023 Nov 10 doi: 10.1016/j.bone.2023.116955. PMID: 37951521
Ververi A, Babatseva E, Mitsiakos G, Karagiannopoulou G, Malakozi M, Patsatsi A, Diamanti E, Garg A
Clin Dysmorphol 2023 Apr 1;32(2):92-94. Epub 2023 Feb 17 doi: 10.1097/MCD.0000000000000453. PMID: 36876346Free PMC Article
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Tunçbilek E, Alanay Y
Orphanet J Rare Dis 2006 Jun 1;1:20. doi: 10.1186/1750-1172-1-20. PMID: 16740166Free PMC Article

Recent systematic reviews

Taqi D, Nematollahi S, Lemin S, Rauch F, Hamdy R, Dahan-Oliel N
Bone 2024 Feb;179:116955. Epub 2023 Nov 10 doi: 10.1016/j.bone.2023.116955. PMID: 37951521

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