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Arthrogryposis multiplex congenita-whistling face syndrome

MedGen UID:
349231
Concept ID:
C1859711
Disease or Syndrome
Synonyms: Arthrogryposis multiplex congenita whistling face; ARTHROGRYPOSIS, WHISTLING FACE, AND DEVELOPMENTAL RETARDATION; Illium syndrome; Illum syndrome; Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system
SNOMED CT: Arthrogryposis multiplex congenita and whistling face syndrome (720514008); Illum syndrome (720514008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0008825
OMIM®: 208155
Orphanet: ORPHA1150

Definition

An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life. [from SNOMEDCT_US]

Clinical features

From HPO
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system.
Calcinosis
MedGen UID:
709
Concept ID:
C0006663
Finding
Formation of calcium deposits in any soft tissue.
Arthrogryposis multiplex congenita
MedGen UID:
1830310
Concept ID:
C5779613
Disease or Syndrome
Multiple congenital contractures in different body areas.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Temperature instability
MedGen UID:
329973
Concept ID:
C1820737
Finding
Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Excessive salivation
MedGen UID:
11419
Concept ID:
C0037036
Disease or Syndrome
Excessive production of saliva.
Whistling appearance
MedGen UID:
338478
Concept ID:
C1848473
Finding
An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArthrogryposis multiplex congenita-whistling face syndrome
Follow this link to review classifications for Arthrogryposis multiplex congenita-whistling face syndrome in Orphanet.

Recent clinical studies

Etiology

Marques FJP, Amarante C, Elias MAC, Klein R, Nascimento OJM, Leyser M
Child Care Health Dev 2023 Mar;49(2):304-310. Epub 2022 Aug 18 doi: 10.1111/cch.13044. PMID: 35959569
Adamczyk-Gruszka O, Horecka-Lewitowicz A, Zmelonek-Znamirowska A, Gruszka J, Koziel D, Lewitowicz P
Am J Case Rep 2021 Sep 17;22:e932769. doi: 10.12659/AJCR.932769. PMID: 34531360Free PMC Article
Poling MI, Morales Corado JA, Chamberlain RL
Syst Rev 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4. PMID: 28264711Free PMC Article
Hoellen F, Schröer A, Kelling K, Krapp M, Axt-Fliedner R, Gembruch U, Weichert J
Fetal Diagn Ther 2011;30(4):289-98. Epub 2011 Dec 8 doi: 10.1159/000331401. PMID: 22156407
Suzumura H, Arisaka O
Adv Exp Med Biol 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. PMID: 20687508

Diagnosis

Pawar N, Ravindran M, Chakravarthy S, Ramakrishnan R
Strabismus 2021 Mar;29(1):34-36. Epub 2021 Jan 22 doi: 10.1080/09273972.2020.1871380. PMID: 33480805
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Ramieri V, Tarani L, Costantino F, Basile E, Liberati N, Rinna C, Cascone P, Colloridi F
J Craniofac Surg 2011 Nov;22(6):2124-8. doi: 10.1097/SCS.0b013e3182323cdf. PMID: 22067867
Hegde SS, Shetty MS, Rama Murthy BS
Indian J Pediatr 2010 Feb;77(2):196-7. Epub 2009 Dec 11 doi: 10.1007/s12098-009-0227-6. PMID: 20012803
Toydemir RM, Bamshad MJ
Orphanet J Rare Dis 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. PMID: 19309503Free PMC Article

Therapy

Poling MI, Morales Corado JA, Chamberlain RL
Syst Rev 2017 Mar 6;6(1):46. doi: 10.1186/s13643-017-0444-4. PMID: 28264711Free PMC Article
Lavi E, Montone KT, Rorke LB, Kliman HJ
Neurology 1991 Sep;41(9):1467-8. doi: 10.1212/wnl.41.9.1467. PMID: 1891100
Poznanski AK, Garn SM, Holt JF
Radiology 1971 Jul;100(1):115-29. doi: 10.1148/100.1.115. PMID: 5147019

Prognosis

Adamczyk-Gruszka O, Horecka-Lewitowicz A, Zmelonek-Znamirowska A, Gruszka J, Koziel D, Lewitowicz P
Am J Case Rep 2021 Sep 17;22:e932769. doi: 10.12659/AJCR.932769. PMID: 34531360Free PMC Article
Altuame FD, Haldeman-Englert C, Cupler E, Al Muhaizea MA, Al-Zaidan HI, Hashem M, Alkuraya FS
Am J Med Genet A 2021 Feb;185(2):370-376. Epub 2020 Nov 11 doi: 10.1002/ajmg.a.61957. PMID: 33179433
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ
Am J Hum Genet 2015 Mar 5;96(3):462-73. Epub 2015 Feb 12 doi: 10.1016/j.ajhg.2015.01.003. PMID: 25683120Free PMC Article
Folkmann AW, Dawson TR, Wente SR
Adv Biol Regul 2014 Jan;54:74-91. Epub 2013 Nov 13 doi: 10.1016/j.jbior.2013.10.002. PMID: 24275432Free PMC Article
Ramieri V, Tarani L, Costantino F, Basile E, Liberati N, Rinna C, Cascone P, Colloridi F
J Craniofac Surg 2011 Nov;22(6):2124-8. doi: 10.1097/SCS.0b013e3182323cdf. PMID: 22067867

Clinical prediction guides

Adamczyk-Gruszka O, Horecka-Lewitowicz A, Zmelonek-Znamirowska A, Gruszka J, Koziel D, Lewitowicz P
Am J Case Rep 2021 Sep 17;22:e932769. doi: 10.12659/AJCR.932769. PMID: 34531360Free PMC Article
Altuame FD, Haldeman-Englert C, Cupler E, Al Muhaizea MA, Al-Zaidan HI, Hashem M, Alkuraya FS
Am J Med Genet A 2021 Feb;185(2):370-376. Epub 2020 Nov 11 doi: 10.1002/ajmg.a.61957. PMID: 33179433
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ
Am J Hum Genet 2015 Mar 5;96(3):462-73. Epub 2015 Feb 12 doi: 10.1016/j.ajhg.2015.01.003. PMID: 25683120Free PMC Article
Folkmann AW, Dawson TR, Wente SR
Adv Biol Regul 2014 Jan;54:74-91. Epub 2013 Nov 13 doi: 10.1016/j.jbior.2013.10.002. PMID: 24275432Free PMC Article

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