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Congenital muscular torticollis

MedGen UID:
86902
Concept ID:
C0079352
Congenital Abnormality
Synonym: Congenital torticollis
SNOMED CT: Contracture of sternocleidomastoid muscle (268240006); Congenital sternomastoid torticollis (268240006); Congenital wry neck (268240006); Congenital wryneck (268240006); Congenital torticollis (268240006)
 
HPO: HP:0005988

Definition

A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital muscular torticollis

Conditions with this feature

Bethlem myopathy
MedGen UID:
331805
Concept ID:
C1834674
Disease or Syndrome
Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. The age at onset is highly variable, ranging from infancy to adulthood. Disease progression is slow and ambulation is usually retained into adulthood (summary by Butterfield et al., 2013). Genetic Heterogeneity of Bethlem Myopathy See Bethlem myopathy-1B (BTHLM1B; 620725), caused by mutation in the COL6A2 gene (120240) on chromosome 21q22; Bethlem myopathy-1C (620726), caused by mutation the COL6A3 gene (120250) on chromosome 2q37; and Bethlem myopathy-2 (BTHLM2; 616471), caused by mutation in the COL12A1 gene (120320) on chromosome 6q13-q14.
Klippel-Feil syndrome 1, autosomal dominant
MedGen UID:
396196
Concept ID:
C1861689
Disease or Syndrome
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.\n\nIn people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.\n\nIn some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.\n\nPeople with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.
Intellectual disability, autosomal dominant 5
MedGen UID:
382611
Concept ID:
C2675473
Mental or Behavioral Dysfunction
SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) and other behavioral abnormalities (=50%). To date more than 50 individuals with SYNGAP1-ID have been reported. In the majority DD/ID was moderate to severe; in some it was mild. The epilepsy is generalized; a subset of individuals with epilepsy have myoclonic astatic epilepsy (Doose syndrome) or epilepsy with myoclonic absences. Behavioral abnormalities can include stereotypic behaviors (e.g., hand flapping, obsessions with certain objects) as well as poor social development. Feeding difficulties can be significant in some.
Hogue-Janssens syndrome 1
MedGen UID:
1830493
Concept ID:
C5779996
Disease or Syndrome
PPP2R5D-related neurodevelopmental disorder is characterized by mild to severe neurodevelopmental delay. Pronounced hypotonia with delay in gross motor skills is common. Onset of independent walking varies widely and ataxia is reported. All reported individuals have speech impairment, with a wide range of abilities. Autism spectrum disorder is reported in six individuals. Macrocephaly is common. Seizures and ophthalmologic abnormalities are reported in fewer than half of individuals. Additional anomalies include skeletal, endocrine, and cardiac malformations, each reported in a few individuals. To date, 23 individuals with PPP2R5D-related neurodevelopmental disorder have been reported.

Professional guidelines

PubMed

Kaplan SL, Coulter C, Sargent B
Pediatr Phys Ther 2018 Oct;30(4):240-290. doi: 10.1097/PEP.0000000000000544. PMID: 30277962Free PMC Article
Carenzio G, Carlisi E, Morani I, Tinelli C, Barak M, Bejor M, Dalla Toffola E
Eur J Phys Rehabil Med 2015 Oct;51(5):539-45. Epub 2015 Feb 18 PMID: 25692687
Do TT
Curr Opin Pediatr 2006 Feb;18(1):26-9. doi: 10.1097/01.mop.0000192520.48411.fa. PMID: 16470158

Recent clinical studies

Etiology

Pastor-Pons I, Hidalgo-García C, Lucha-López MO, Barrau-Lalmolda M, Rodes-Pastor I, Rodríguez-Fernández ÁL, Tricás-Moreno JM
Ital J Pediatr 2021 Feb 25;47(1):41. doi: 10.1186/s13052-021-00995-9. PMID: 33632268Free PMC Article
Ellwood J, Draper-Rodi J, Carnes D
Chiropr Man Therap 2020 Jun 11;28(1):31. doi: 10.1186/s12998-020-00321-w. PMID: 32522230Free PMC Article
Heidenreich E, Johnson R, Sargent B
Pediatr Phys Ther 2018 Jul;30(3):164-175. doi: 10.1097/PEP.0000000000000517. PMID: 29924060Free PMC Article
Carenzio G, Carlisi E, Morani I, Tinelli C, Barak M, Bejor M, Dalla Toffola E
Eur J Phys Rehabil Med 2015 Oct;51(5):539-45. Epub 2015 Feb 18 PMID: 25692687
Kuo AA, Tritasavit S, Graham JM Jr
Pediatr Rev 2014 Feb;35(2):79-87; quiz 87. doi: 10.1542/pir.35-2-79. PMID: 24488831

Diagnosis

Song S, Hwang W, Lee S
Medicine (Baltimore) 2021 Aug 20;100(33):e26998. doi: 10.1097/MD.0000000000026998. PMID: 34414985Free PMC Article
Sargent B, Kaplan SL, Coulter C, Baker C
Pediatrics 2019 Aug;144(2) doi: 10.1542/peds.2019-0582. PMID: 31350358Free PMC Article
Heidenreich E, Johnson R, Sargent B
Pediatr Phys Ther 2018 Jul;30(3):164-175. doi: 10.1097/PEP.0000000000000517. PMID: 29924060Free PMC Article
Kuo AA, Tritasavit S, Graham JM Jr
Pediatr Rev 2014 Feb;35(2):79-87; quiz 87. doi: 10.1542/pir.35-2-79. PMID: 24488831
Do TT
Curr Opin Pediatr 2006 Feb;18(1):26-9. doi: 10.1097/01.mop.0000192520.48411.fa. PMID: 16470158

Therapy

Bashir A, Amjad F, Ahmad A, Arooj A, Gilani SA
J Pak Med Assoc 2023 Jan;73(1):111-116. doi: 10.47391/JPMA.3852. PMID: 36842018
Song S, Hwang W, Lee S
Medicine (Baltimore) 2021 Aug 20;100(33):e26998. doi: 10.1097/MD.0000000000026998. PMID: 34414985Free PMC Article
Pastor-Pons I, Hidalgo-García C, Lucha-López MO, Barrau-Lalmolda M, Rodes-Pastor I, Rodríguez-Fernández ÁL, Tricás-Moreno JM
Ital J Pediatr 2021 Feb 25;47(1):41. doi: 10.1186/s13052-021-00995-9. PMID: 33632268Free PMC Article
Kuo AA, Tritasavit S, Graham JM Jr
Pediatr Rev 2014 Feb;35(2):79-87; quiz 87. doi: 10.1542/pir.35-2-79. PMID: 24488831
Do TT
Curr Opin Pediatr 2006 Feb;18(1):26-9. doi: 10.1097/01.mop.0000192520.48411.fa. PMID: 16470158

Prognosis

Castilla A, Gonzalez M, Kysh L, Sargent B
Pediatr Phys Ther 2023 Apr 1;35(2):190-200. Epub 2023 Jan 10 doi: 10.1097/PEP.0000000000000993. PMID: 36637442
Pastor-Pons I, Hidalgo-García C, Lucha-López MO, Barrau-Lalmolda M, Rodes-Pastor I, Rodríguez-Fernández ÁL, Tricás-Moreno JM
Ital J Pediatr 2021 Feb 25;47(1):41. doi: 10.1186/s13052-021-00995-9. PMID: 33632268Free PMC Article
Kaplan SL, Coulter C, Sargent B
Pediatr Phys Ther 2018 Oct;30(4):240-290. doi: 10.1097/PEP.0000000000000544. PMID: 30277962Free PMC Article
Heidenreich E, Johnson R, Sargent B
Pediatr Phys Ther 2018 Jul;30(3):164-175. doi: 10.1097/PEP.0000000000000517. PMID: 29924060Free PMC Article
Suhr MC, Oledzka M
Curr Opin Pediatr 2015 Feb;27(1):75-81. doi: 10.1097/MOP.0000000000000175. PMID: 25565573

Clinical prediction guides

Kim TH, Kim YC, Choi JW
J Craniomaxillofac Surg 2024 Jun;52(6):763-771. Epub 2024 Apr 1 doi: 10.1016/j.jcms.2024.03.034. PMID: 38616143
Bashir A, Amjad F, Ahmad A, Arooj A, Gilani SA
J Pak Med Assoc 2023 Jan;73(1):111-116. doi: 10.47391/JPMA.3852. PMID: 36842018
Suhr MC, Oledzka M
Curr Opin Pediatr 2015 Feb;27(1):75-81. doi: 10.1097/MOP.0000000000000175. PMID: 25565573
Kuo AA, Tritasavit S, Graham JM Jr
Pediatr Rev 2014 Feb;35(2):79-87; quiz 87. doi: 10.1542/pir.35-2-79. PMID: 24488831
Do TT
Curr Opin Pediatr 2006 Feb;18(1):26-9. doi: 10.1097/01.mop.0000192520.48411.fa. PMID: 16470158

Recent systematic reviews

Castilla A, Gonzalez M, Kysh L, Sargent B
Pediatr Phys Ther 2023 Apr 1;35(2):190-200. Epub 2023 Jan 10 doi: 10.1097/PEP.0000000000000993. PMID: 36637442
Kim E, Choi J, Min SY
Medicine (Baltimore) 2022 Dec 2;101(48):e32086. doi: 10.1097/MD.0000000000032086. PMID: 36482534Free PMC Article
Qiu X, Cui Z, Tang G, Deng H, Xiong Z, Han S, Tang S
J Craniofac Surg 2020 Nov/Dec;31(8):2160-2166. doi: 10.1097/SCS.0000000000006652. PMID: 33136847
Ellwood J, Draper-Rodi J, Carnes D
Chiropr Man Therap 2020 Jun 11;28(1):31. doi: 10.1186/s12998-020-00321-w. PMID: 32522230Free PMC Article
Kim HJ, Ahn HS, Yim SY
Plast Reconstr Surg 2015 Jul;136(1):67e-77e. doi: 10.1097/PRS.0000000000001373. PMID: 26111334

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