Medicine:Freeman–Sheldon syndrome

From HandWiki
Short description: Rare congenital disorder
Freeman–Sheldon syndrome
Other namesDistal arthrogryposis type 2A (DA2A), craniocarpotarsal dysplasia, craniocarpotarsal dystrophy, cranio-carpo-tarsal syndrome, whistling face–windmill vane hand syndrome
Freeman-Sheldon syndrome.JPG

Freeman–Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis (DA).[1][2][3] It was originally described by Ernest Arthur Freeman and Joseph Harold Sheldon in 1938.[4][5]:577

As of 2007, only about 100 cases had been reported in medical literature.[6]

Signs and symptoms

The symptoms of Freeman–Sheldon syndrome include drooping of the upper eyelids, strabismus, low-set ears, a long philtrum, gradual hearing loss, scoliosis and walking difficulties. Gastroesophageal reflux has been noted during infancy, but usually improves with age. The tongue may be small, and the limited movement of the soft palate may cause nasal speech. Often there is an H- or Y-shaped dimpling of the skin over the chin.[citation needed]

Cause

FSS is caused by genetic changes. Krakowiak et al. (1998) mapped the distal arthrogryposis multiplex congenita (DA2B; MIM #601680) gene, a syndrome very similar in phenotypic expression to classic FSS, to 11p15.5-pter.[7][8] Other mutations have been found as well.[9][10] In FSS, inheritance may be either autosomal dominant, most often demonstrated.[11][12][13] or autosomal recessive (MIM 277720).[14][15][16][17] Alves and Azevedo (1977) note most reported cases of DA2A have been identified as new allelic variation.[18] Toydemir et al. (2006) showed that mutations in embryonic myosin heavy chain 3 (MYH3; MIM *160270), at 17p-13.1-pter, caused classic FSS phenotype, in their screening of 28 (21 sporadic and 7 familial) probands with distal arthrogryposis type 2A.[19][20] In 20 patients (12 and 8 probands, respectively), missense mutations (R672H; MIM *160270.0001 and R672C; MIM *160270.0002) caused substitution of arg672, an embryonic myosin residue retained post-embryonically.[19][20][20] Of the remaining 6 patients in whom they found mutations, 3 had missense private de novo (E498G; MIM *160270.0006 and Y583S) or familial mutations (V825D; MIM *160270.0004); 3 other patients with sporadic expression had de novo mutations (T178I; MIM *160270.0003), which was also found in DA2B; 2 patients had no recognized mutations.[19][20]

Diagnosis

Freeman–Sheldon syndrome is a type of distal arthrogryposis, related to distal arthrogryposis type 1 (DA1).[21] In 1996, more strict criteria for the diagnosis of Freeman–Sheldon syndrome were drawn up, assigning Freeman–Sheldon syndrome as distal arthrogryposis type 2A (DA2A).[3]

On the whole, DA1 is the least severe; DA2B is more severe with additional features that respond less favourably to therapy. DA2A (Freeman–Sheldon syndrome) is the most severe of the three, with more abnormalities and greater resistance to therapy.[3]

Freeman–Sheldon syndrome has been described as a type of congenital myopathy.[22]

In March 2006, Stevenson et al. published strict diagnostic criteria for distal arthrogryposis type 2A (DA2A) or Freeman–Sheldon syndrome. These included two or more features of distal arthrogryposis: microstomia, whistling-face, nasolabial creases, and 'H-shaped' chin dimple.[2]

Management

Surgical and anesthetic considerations

Patients must have early consultation with craniofacial and orthopaedic surgeons, when craniofacial,[23][24][25] clubfoot,[26] or hand correction[27][28][29][30] is indicated to improve function or aesthetics. Operative measures should be pursued cautiously, with avoidance of radical measures and careful consideration of the abnormal muscle physiology in Freeman–Sheldon syndrome. Unfortunately, many surgical procedures have suboptimal outcomes, secondary to the myopathy of the syndrome.[citation needed]

When operative measures are to be undertaken, they should be planned for as early in life as is feasible, in consideration of the tendency for fragile health. Early interventions hold the possibility to minimise developmental delays and negate the necessity of relearning basic functions.[citation needed]

Due to the abnormal muscle physiology in Freeman–Sheldon syndrome, therapeutic measures may have unfavourable outcomes.[31] Difficult endotracheal intubations and vein access complicate operative decisions in many DA2A patients, and malignant hyperthermia (MH) may affect individuals with FSS, as well.[32][33][34][35] Cruickshanks et al. (1999) reports uneventful use of non-MH-triggering agents.[36] Reports have been published about spina bifida occulta in anaesthesia management[37] and cervical kyphoscoliosis in intubations.[38]

Medical emphasis

General health maintenance should be the therapeutic emphasis in Freeman–Sheldon syndrome. The focus is on limiting exposure to infectious diseases because the musculoskeletal abnormalities make recovery from routine infections much more difficult in FSS. Pneumonitis and bronchitis often follow seemingly mild upper respiratory tract infections. Though respiratory challenges and complications faced by a patient with FSS can be numerous, the syndrome's primary involvement is limited to the musculoskeletal systems, and satisfactory quality and length of life can be expected with proper care.[citation needed]

Prognosis

There are little data on prognosis. Rarely, some patients have died in infancy from respiratory failure; otherwise, life expectancy is considered to be normal.[citation needed]

Epidemiology

By 1990, 65 patients had been reported in the literature, with no sex or ethnic preference notable.[39] Some individuals present with minimal malformation; rarely patients have died during infancy as a result of severe central nervous system involvement[40] or respiratory complications.[41] Several syndromes are related to the Freeman–Sheldon syndrome spectrum, but more information is required before undertaking such nosological delineation.[42][43][44]

Research directions

One research priority is to determine the role and nature of malignant hyperthermia in FSS. Such knowledge would benefit possible surgical candidates and the anaesthesiology and surgical teams who would care for them. MH may also be triggered by stress in patients with muscular dystrophies.[45] Much more research is warranted to evaluate this apparent relationship of idiopathic hyperpyrexia, MH, and stress. Further research is wanted to determine epidemiology of psychopathology in FSS and refine therapy protocols.[citation needed]

Eponym

It is named for British orthopaedic surgeon Ernest Arthur Freeman (1900–1975) and British physician Joseph Harold Sheldon (1893–1972), who first described it in 1938.[4][5]:577

References

  1. ↑ Online Mendelian Inheritance in Man (OMIM) 193700
  2. ↑ 2.0 2.1 Stevenson, DA; Carey JC; Palumbos J; Rutherford A; Dolcourt J; Bamshad MJ (March 2006). "Clinical characteristics and natural history of Freeman-Sheldon syndrome". Pediatrics 117 (3): 754–62. doi:10.1542/peds.2005-1219. PMID 16510655. http://pediatrics.aappublications.org/cgi/content/full/117/3/754. 
  3. ↑ 3.0 3.1 3.2 "A revised and extended classification of the distal arthrogryposes". Am. J. Med. Genet. 65 (4): 277–81. November 1996. doi:10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M. PMID 8923935. 
  4. ↑ 4.0 4.1 Freeman, EA; Sheldon JH (1938). "Cranio-carpo-tarsal dystrophy: undescribed congenital malformation". Arch Dis Child 13 (75): 277–83. doi:10.1136/adc.13.75.277. PMID 21032118. 
  5. ↑ 5.0 5.1 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN:0-7216-2921-0.
  6. ↑ "Freeman Sheldon Syndrome" (in en-US). https://rarediseases.org/rare-diseases/freeman-sheldon-syndrome/. 
  7. ↑ "A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter". Am. J. Hum. Genet. 60 (2): 426–32. 1997. PMID 9012416. 
  8. ↑ "Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)". Am. J. Med. Genet. 76 (1): 93–8. 1998. doi:10.1002/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO;2-K. PMID 9508073. 
  9. ↑ "Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B". Am. J. Hum. Genet. 73 (1): 212–4. 2003. doi:10.1086/376418. PMID 12865991. 
  10. ↑ "Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes". Am. J. Hum. Genet. 72 (3): 681–90. 2003. doi:10.1086/368294. PMID 12592607. 
  11. ↑ "[Windmill vane-like finger deformities]" (in de). Z Orthop Ihre Grenzgeb 110 (3): 395–8. 1972. PMID 4263226. 
  12. ↑ Jorgenson RJ (1974). "M--craniocarpotarsal dystrophy (whistling face syndrome) in two families". Birth Defects Orig. Artic. Ser. 10 (5): 237–42. PMID 4220006. 
  13. ↑ "A family with whistling-face-syndrome". Hum. Genet. 55 (2): 177–89. 1980. doi:10.1007/BF00291765. PMID 7450762. 
  14. ↑ "Autosomal recessive type of whistling face syndrome in twins". Pediatrics 69 (3): 328–31. 1982. doi:10.1542/peds.69.3.328. PMID 7199706. 
  15. ↑ Kaul KK (1981). "Whistling face syndrome (craniocarpotarsal dysplasia)". Indian Pediatr 18 (1): 72–3. PMID 7262998. 
  16. ↑ "[The Freeman-Sheldon syndrome]" (in it). Arch Putti Chir Organi Mov 38 (1): 215–22. 1990. PMID 2136374. 
  17. ↑ "New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome". Am. J. Med. Genet. 25 (3): 507–11. 1986. doi:10.1002/ajmg.1320250312. PMID 3789012. 
  18. ↑ "Recessive form of Freeman-Sheldon's syndrome or 'whistling face'". J. Med. Genet. 14 (2): 139–41. 1977. doi:10.1136/jmg.14.2.139. PMID 856233. 
  19. ↑ 19.0 19.1 19.2 "Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome". Nat. Genet. 38 (5): 561–5. 2006. doi:10.1038/ng1775. PMID 16642020. 
  20. ↑ 20.0 20.1 20.2 20.3 Online Mendelian Inheritance in Man (OMIM) MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC; MYH3 -160720
    b .0001 c .0002 d .0004 e .0006, .0003
  21. ↑ "The distal arthrogryposes: delineation of new entities—review and nosologic discussion". Am. J. Med. Genet. 11 (2): 185–239. February 1982. doi:10.1002/ajmg.1320110208. PMID 7039311. 
  22. ↑ "Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?". J. Med. Genet. 23 (3): 231–6. June 1986. doi:10.1136/jmg.23.3.231. PMID 3723551. 
  23. ↑ "A new surgical procedure for correction of lip deformity in cranio-carpo-tarsal dysplasia (whistling face syndrome)". J Oral Surg 37 (9): 669–72. September 1979. PMID 288890. 
  24. ↑ Nara T (July 1981). "Reconstruction of an upper lip and the coloboma in the nasal ala accompanying with Freeman-Sheldon syndrome". Nippon Geka Hokan 50 (4): 626–32. PMID 7316645. 
  25. ↑ "Freeman-Sheldon syndrome: surgical correction of microstomia". Br J Plast Surg 47 (3): 201–2. April 1994. doi:10.1016/0007-1226(94)90056-6. PMID 8193861. 
  26. ↑ "The whistling face syndrome, or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature". J Pediatr Orthop 3 (3): 364–9. July 1983. doi:10.1097/01241398-198307000-00017. PMID 6874936. 
  27. ↑ "Functional hand reconstruction in the whistling-face syndrome". J Hand Surg Am 6 (2): 148–51. March 1981. doi:10.1016/s0363-5023(81)80168-2. PMID 7229290. 
  28. ↑ "[Hand deformities in Freeman-Sheldon syndrome and their surgical treatment]" (in de). Z Orthop Ihre Grenzgeb 121 (5): 623–9. 1983. doi:10.1055/s-2008-1053288. PMID 6649810. 
  29. ↑ "[Surgical treatment of the hand deformity in Freeman-Sheldon syndrome]" (in de). Handchir Mikrochir Plast Chir 14 (4): 210–2. December 1982. PMID 6763591. 
  30. ↑ "Two-stage correction of thumb adduction contracture in Freeman-Sheldon syndrome (craniocarpotarsal dysplasia)". J Hand Surg Am 14 (6): 937–40. November 1989. doi:10.1016/S0363-5023(89)80040-1. PMID 2584652. 
  31. ↑ "[The Freeman-Sheldon Syndrome]" (in de). Z Orthop Ihre Grenzgeb 121 (5): 630–3. 1983. doi:10.1055/s-2008-1053289. PMID 6649811. 
  32. ↑ "Freeman-Sheldon syndrome: report of three cases and the anaesthetic implications". Can Anaesth Soc J 33 (3 Pt 1): 388–93. 1986. doi:10.1007/BF03010755. PMID 3719442. 
  33. ↑ "Freeman-Sheldon (whistling face) syndrome. Anaesthetic and airway management". Paediatr Anaesth 7 (4): 345–8. 1997. doi:10.1046/j.1460-9592.1997.d01-90.x. PMID 9243695. 
  34. ↑ "[Anesthetic management of a patient with Freeman-Sheldon syndrome]" (in ja). Masui 43 (11): 1748–53. 1994. PMID 7861610. 
  35. ↑ "[Freeman-Sheldon syndrome: generalized muscular rigidity after anesthetic induction]" (in es). Rev Esp Anestesiol Reanim 41 (3): 182–4. 1994. PMID 8059048. 
  36. ↑ "Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway". Can J Anaesth 46 (8): 783–7. 1999. doi:10.1007/BF03013916. PMID 10451140. 
  37. ↑ "[Anesthetic management of a patient with Freeman-Sheldon syndrome]" (in ja). Masui 49 (8): 901–2. 2000. PMID 10998888. 
  38. ↑ "Anaesthetic management of a patient with Freeman Sheldon syndrome". Paediatr Anaesth 8 (2): 175–7. 1998. doi:10.1046/j.1460-9592.1998.00676.x. PMID 9549749. 
  39. ↑ "Freeman-Sheldon syndrome". Orphanet Encyclopedia. Comier-Daire. 
  40. ↑ "Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss". Am. J. Med. Genet. 62 (3): 293–6. March 1996. doi:10.1002/(SICI)1096-8628(19960329)62:3<293::AID-AJMG17>3.0.CO;2-F. PMID 8882790. 
  41. ↑ "Freeman Sheldon syndrome in a newborn (whistling face)--a case report". Indian Pediatr 16 (3): 291–2. March 1979. PMID 110675. 
  42. ↑ "Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance". J. Med. Genet. 21 (5): 364–8. October 1984. doi:10.1136/jmg.21.5.364. PMID 6502650. 
  43. ↑ Träger D (1987). "[Cranio-carpo-tarsal dysplasia syndrome (Freeman-Sheldon syndrome, whistling face syndrome)]" (in de). Z Orthop Ihre Grenzgeb 125 (1): 106–7. doi:10.1055/s-2008-1039687. PMID 3577337. 
  44. ↑ "A new syndrome with distinct facial and auricular malformations and dominant inheritance". Am. J. Med. Genet. 32 (2): 184–6. February 1989. doi:10.1002/ajmg.1320320209. PMID 2929657. 
  45. ↑ "Malignant hyperthermia: update on susceptibility testing". JAMA 293 (23): 2918–24. 2005. doi:10.1001/jama.293.23.2918. PMID 15956637. 

External links

Classification
External resources



Retrieved from "https://handwiki.org/wiki/index.php?title=Medicine:Freeman–Sheldon_syndrome&oldid=2173689"