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Tetraamelia-multiple malformations syndrome

MedGen UID:
419746
•Concept ID:
C2931218
•
Disease or Syndrome
Synonyms: Tetraamelia multiple malformations X-linked; Zimmer phocomelia; Zimmer Taub Sova syndrome
SNOMED CT: Tetraamelia with multiple malformation syndrome (716249009); Zimmer phocomelia (716249009); Tetra-amelia with multiple malformation syndrome (716249009)
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).
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010110
OMIM® Phenotypic series: PS273395
Orphanet: ORPHA3301

Definition

An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTetraamelia-multiple malformations syndrome
Follow this link to review classifications for Tetraamelia-multiple malformations syndrome in Orphanet.

Professional guidelines

PubMed

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Diagnosis, Treatment, and Long-Term Management of Kawasaki Disease: A Scientific Statement for Health Professionals From the American Heart Association.
McCrindle BW, Rowley AH, Newburger JW, Burns JC, Bolger AF, Gewitz M, Baker AL, Jackson MA, Takahashi M, Shah PB, Kobayashi T, Wu MH, Saji TT, Pahl E; American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee of the Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; Council on Cardiovascular Surgery and Anesthesia; and Council on Epidemiology and Prevention
Circulation 2017 Apr 25;135(17):e927-e999. Epub 2017 Mar 29 doi: 10.1161/CIR.0000000000000484. PMID: 28356445
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Syndromic Hydrocephalus.
Varagur K, Sanka SA, Strahle JM
Neurosurg Clin N Am 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. PMID: 34801143Free PMC Article
Craniosynostosis: Neonatal Perspectives.
Bautista G
Neoreviews 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250. PMID: 33795400
Hemangioma-related syndromes.
Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A
Am J Med Genet A 2016 Aug;170(8):2141-72. Epub 2016 Jun 8 doi: 10.1002/ajmg.a.37775. PMID: 27273803
The RASopathies.
Rauen KA
Annu Rev Genomics Hum Genet 2013;14:355-69. Epub 2013 Jul 15 doi: 10.1146/annurev-genom-091212-153523. PMID: 23875798Free PMC Article

Diagnosis

Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.
Sadick M, Müller-Wille R, Wildgruber M, Wohlgemuth WA
Rofo 2018 Sep;190(9):825-835. Epub 2018 Jun 6 doi: 10.1055/a-0620-8925. PMID: 29874693
Rare Upper Airway Anomalies.
Windsor A, Clemmens C, Jacobs IN
Paediatr Respir Rev 2016 Jan;17:24-8. Epub 2015 Jul 10 doi: 10.1016/j.prrv.2015.07.001. PMID: 26277452
Congenital malformations.
Corsello G, Giuffrè M
J Matern Fetal Neonatal Med 2012 Apr;25 Suppl 1:25-9. Epub 2012 Mar 14 doi: 10.3109/14767058.2012.664943. PMID: 22356564
Dysmorphology diagnosis.
Puri RD, Verma IC
Indian J Pediatr 2004 Jun;71(6):535-9. doi: 10.1007/BF02724297. PMID: 15226565
The Noonan-CFC controversy.
Neri G, Zollino M, Reynolds JF
Am J Med Genet 1991 Jun 1;39(3):367-70. doi: 10.1002/ajmg.1320390323. PMID: 1867292

Therapy

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Syndromic Craniosynostosis.
Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747
What's New in Genetic Skin Diseases.
Hill CR, Theos A
Dermatol Clin 2019 Apr;37(2):229-239. doi: 10.1016/j.det.2018.11.004. PMID: 30850045
Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G
Nature 2018 Jun;558(7711):540-546. Epub 2018 Jun 13 doi: 10.1038/s41586-018-0217-9. PMID: 29899452Free PMC Article
Depression during Pregnancy.
Pearlstein T
Best Pract Res Clin Obstet Gynaecol 2015 Jul;29(5):754-64. Epub 2015 Apr 17 doi: 10.1016/j.bpobgyn.2015.04.004. PMID: 25976080

Prognosis

Genetic bases of craniosynostoses: An update.
Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M
Neurochirurgie 2019 Nov;65(5):196-201. Epub 2019 Oct 9 doi: 10.1016/j.neuchi.2019.10.003. PMID: 31605683
Brainstem dysgenesis: beyond Moebius syndrome.
Munell F, Tormos MA, Roig-Quilis M
Rev Neurol 2018 Apr 1;66(7):241-250. PMID: 29557550
Combined and complex vascular malformations.
Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR
Vasa 2015 Mar;44(2):92-105. doi: 10.1024/0301-1526/a000414. PMID: 25698387
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554

Clinical prediction guides

Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A
Am J Med Genet A 2016 Aug;170(8):2141-72. Epub 2016 Jun 8 doi: 10.1002/ajmg.a.37775. PMID: 27273803
Combined and complex vascular malformations.
Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR
Vasa 2015 Mar;44(2):92-105. doi: 10.1024/0301-1526/a000414. PMID: 25698387
PELVIS Syndrome.
Girard C, Bigorre M, Guillot B, Bessis D
Arch Dermatol 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. PMID: 16847205
The versatile RECQL4.
Kellermayer R
Genet Med 2006 Apr;8(4):213-6. doi: 10.1097/01.gim.0000214457.58378.1a. PMID: 16617241
Aicardi syndrome.
Rosser T
Arch Neurol 2003 Oct;60(10):1471-3. doi: 10.1001/archneur.60.10.1471. PMID: 14568821

Recent systematic reviews

Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.
Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Autism and Down syndrome: early identification and diagnosis.
Diniz NLF, Parlato-Oliveira E, Pimenta PGA, Araújo LA, Valadares ER
Arq Neuropsiquiatr 2022 Jun;80(6):620-630. doi: 10.1590/0004-282X-ANP-2021-0156. PMID: 35946706Free PMC Article
Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.
Thwaites PA, Gibson PR, Burgell RE
J Gastroenterol Hepatol 2022 Sep;37(9):1693-1709. Epub 2022 Jul 20 doi: 10.1111/jgh.15927. PMID: 35750466Free PMC Article
Treatment of keratosis pilaris and its variants: a systematic review.
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029
Congenital Zika syndrome: A systematic review.
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article

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