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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). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

See: Feature record | Search on this feature

Abnormality of limbs
- Amelia

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal recessive amelia

Dysostosis with combined reduction defects of upper and lower limbs
- Autosomal recessive amelia

Follow this link to review classifications for Autosomal recessive amelia in Orphanet.

Professional guidelines

PubMed

ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.

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

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

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: 16380922 Free PMC Article

See all (2)

Recent clinical studies

Etiology

Multidisciplinary approach to patients with manifestations and pulmonary complications of cystic fibrosis.

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: 33544791 Free PMC Article

The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2.

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

Femorotibial ankylosis in a child with Roberts syndrome: an "aggressive" approach to habilitation.

Eylon S, Beeri M, Joseph K, Meyer S
J Pediatr Orthop 2007 Dec;27(8):926-9. doi: 10.1097/bpo.0b013e31815a6045. PMID: 18209617

von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.

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

Genetics and limb deficiencies.

Lenz W
Clin Orthop Relat Res 1980 May;(148):9-17. PMID: 7379414

See all (6)

Diagnosis

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

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: 34387910 Free 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: 34215320 Free PMC Article

Multidisciplinary approach to patients with manifestations and pulmonary complications of cystic fibrosis.

Expanding the mutation and clinical spectrum of Roberts syndrome.

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

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.

Sousa SB, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, Kohlhase J, Amorim M, Gonnet K, Lévy N, Carreira IM, Couceiro AB, Saraiva JM
Am J Med Genet A 2008 Nov 1;146A(21):2799-803. doi: 10.1002/ajmg.a.32489. PMID: 18837045

See all (30)

Therapy

Real-time measurement of blood pressure with Nexfin in a patient with thalidomide-related phocomelia.

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

Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.

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

See all (2)

Prognosis

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.

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

Intrapartum diagnostic of Roberts syndrome - case presentation.

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

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

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: 16380922 Free PMC Article

Prenatal diagnosis of unilateral tibial hemimelia.

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

Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.

Mollica F, Mazzone D, Cimino G, Opitz JM
Am J Med Genet 1995 Mar 27;56(2):168-72. doi: 10.1002/ajmg.1320560211. PMID: 7625440

See all (10)

Clinical prediction guides

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

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

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Temtamy SA, Ismail S, Helmy NA
Genet Couns 2006;17(1):1-13. PMID: 16719272

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

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: 16380922 Free PMC Article

Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.

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: 14872406 Free PMC Article

Prenatal diagnosis of unilateral tibial hemimelia.

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

See all (7)

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Autosomal recessive amelia(PAPPAS)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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