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Autosomal recessive amelia(PAPPAS)

MedGen UID:
321955
Concept ID:
C1832432
Disease or Syndrome
Synonym: Amelia, Autosomal Recessive
SNOMED CT: Autosomal recessive amelia (726735000)
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).
 
Gene (location): TBX4 (17q23.2)
 
Monarch Initiative: MONDO:0011054
OMIM®: 601360
Orphanet: ORPHA1027

Definition

Posterior amelia with pelvic and pulmonary hypoplasia syndrome (PAPPAS) is characterized by absent lower limbs, severely hypoplastic or absent pelvic bones, and hypoplasia of the sacrum, as well as hypoplasia of the lungs with pulmonary segmentation defect. Ambiguous genitalia have also been observed (Kariminejad et al., 2019). Heterozygous mutation in the TBX4 gene causes ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; 147891). [from OMIM]

Clinical features

From HPO
Amelia
MedGen UID:
8014
Concept ID:
C0002447
Congenital Abnormality
Congenital absence (aplasia) of one or more limbs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive amelia
Follow this link to review classifications for Autosomal recessive amelia in Orphanet.

Professional guidelines

PubMed

Ismail S, Essawi M, Sedky N, Hassan H, Fayez A, Helmy N, Shehab M, Farouk D, Elruby M, Otaify G, Eldarsh A, Hosny L, Gaber K, Aboul-Ezz EHA, Ramzy MI, Mehrez MI, Hassib NF, Elhadidi SMA, Aglan MS, Temtamy SA
Genet Couns 2016;27(3):305-323. PMID: 30204960
Schüle B, Oviedo A, Johnston K, Pai S, Francke U
Am J Hum Genet 2005 Dec;77(6):1117-28. Epub 2005 Oct 31 doi: 10.1086/498695. PMID: 16380922Free PMC Article

Recent clinical studies

Etiology

Biciuşcă V, Petrescu IO, Singer CE, Oancea AG, Petrescu AM, Stan IS, Durand P, Taisescu CI, Dumitrescu D, Dobrescu MA, Udriştoiu I, Tudoraşcu DR, Petrescu F
Rom J Morphol Embryol 2020 Apr-Jun;61(2):397-406. doi: 10.47162/RJME.61.2.09. PMID: 33544791Free PMC Article
Dogan M, Firinci F, Balci YI, Zeybek S, Ozgürler F, Erdogan I, Varan B, Semerci CN
J Pak Med Assoc 2014 Apr;64(4):457-60. PMID: 24864645
Eylon S, Beeri M, Joseph K, Meyer S
J Pediatr Orthop 2007 Dec;27(8):926-9. doi: 10.1097/bpo.0b013e31815a6045. PMID: 18209617
Lubinsky MS, Kahler SG, Speer IE, Hoyme HE, Kirillova IA, Lurie IW
Am J Med Genet 1994 Sep 1;52(3):272-8. doi: 10.1002/ajmg.1320520305. PMID: 7810558
Lenz W
Clin Orthop Relat Res 1980 May;(148):9-17. PMID: 7379414

Diagnosis

Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R
Hum Mutat 2021 Nov;42(11):1384-1398. Epub 2021 Aug 23 doi: 10.1002/humu.24270. PMID: 34387910Free PMC Article
Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A
Clin Epigenetics 2021 Jul 2;13(1):137. doi: 10.1186/s13148-021-01117-2. PMID: 34215320Free PMC Article
Biciuşcă V, Petrescu IO, Singer CE, Oancea AG, Petrescu AM, Stan IS, Durand P, Taisescu CI, Dumitrescu D, Dobrescu MA, Udriştoiu I, Tudoraşcu DR, Petrescu F
Rom J Morphol Embryol 2020 Apr-Jun;61(2):397-406. doi: 10.47162/RJME.61.2.09. PMID: 33544791Free PMC Article
Kantaputra PN, Kapoor S, Verma P, Kaewgahya M, Kawasaki K, Ohazama A, Ketudat Cairns JR
Eur J Med Genet 2017 Dec;60(12):695-700. Epub 2017 Sep 14 doi: 10.1016/j.ejmg.2017.09.005. PMID: 28917830
Afifi HH, Abdel-Salam GM, Eid MM, Tosson AM, Shousha WG, Abdel Azeem AA, Farag MK, Mehrez MI, Gaber KR
Congenit Anom (Kyoto) 2016 Jul;56(4):154-62. doi: 10.1111/cga.12151. PMID: 26710928

Therapy

Earle R, Vaghadia H, Shanahan E, Tang R, Sawka A
J Clin Anesth 2016 Nov;34:244-6. Epub 2016 May 13 doi: 10.1016/j.jclinane.2016.04.035. PMID: 27687383
Marles SL, Reed M, Evans JA
Am J Med Genet A 2003 Jan 1;116A(1):85-9. doi: 10.1002/ajmg.a.10731. PMID: 12476458

Prognosis

Sezer A, Kayhan G, Zenker M, Percin EF
Eur J Med Genet 2019 Dec;62(12):103608. Epub 2018 Dec 24 doi: 10.1016/j.ejmg.2018.12.013. PMID: 30590172
Socolov RV, Andreescu NI, Haliciu AM, Gorduza EV, Dumitrache F, Balan RA, Puiu M, Dobrescu MA, Socolov DG
Rom J Morphol Embryol 2015;56(2):585-8. PMID: 26193234
Dogan M, Firinci F, Balci YI, Zeybek S, Ozgürler F, Erdogan I, Varan B, Semerci CN
J Pak Med Assoc 2014 Apr;64(4):457-60. PMID: 24864645
Eylon S, Beeri M, Joseph K, Meyer S
J Pediatr Orthop 2007 Dec;27(8):926-9. doi: 10.1097/bpo.0b013e31815a6045. PMID: 18209617
Dreyfus M, Baldauf JJ, Rigaut E, Clavert JM, Gasser B, Ritter J
Ultrasound Obstet Gynecol 1996 Mar;7(3):205-7. doi: 10.1046/j.1469-0705.1996.07030205.x. PMID: 8705415

Clinical prediction guides

Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW
Hum Mol Genet 2008 Jul 15;17(14):2172-80. Epub 2008 Apr 14 doi: 10.1093/hmg/ddn116. PMID: 18411254
Temtamy SA, Ismail S, Helmy NA
Genet Couns 2006;17(1):1-13. PMID: 16719272
Schüle B, Oviedo A, Johnston K, Pai S, Francke U
Am J Hum Genet 2005 Dec;77(6):1117-28. Epub 2005 Oct 31 doi: 10.1086/498695. PMID: 16380922Free PMC Article
Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Müller U
Am J Hum Genet 2004 Mar;74(3):558-63. Epub 2004 Feb 5 doi: 10.1086/382196. PMID: 14872406Free PMC Article
Dreyfus M, Baldauf JJ, Rigaut E, Clavert JM, Gasser B, Ritter J
Ultrasound Obstet Gynecol 1996 Mar;7(3):205-7. doi: 10.1046/j.1469-0705.1996.07030205.x. PMID: 8705415

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