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Tetra-Amelia Syndrome

Synonym: Tetra-Amelia, Autosomal Recessive

, MD.

Author Information

Initial Posting: ; Last Update: August 2, 2012.


Clinical characteristics.

Tetra-amelia syndrome is characterized by the (complete) absence of all four limbs and anomalies involving the cranium and the face (cleft lip/cleft palate, micrognathia, microtia, single naris, choanal atresia, absence of nose); eyes (microphthalmia, microcornea, cataract, coloboma, palpebral fusion); urogenital system (renal agenesis, persistence of cloaca, absence of external genitalia, atresia of vagina); anus (atresia); heart; lungs (hypoplasia/aplasia), skeleton (hypoplasia/absence of pelvic bones, absence of ribs, absence of vertebrae), and central nervous system (agenesis of olfactory nerves, agenesis of optic nerves, agenesis of corpus callosum, hydrocephalus). Affected infants are often stillborn or die shortly after birth.


The diagnosis of tetra-amelia syndrome can be established clinically and is usually made on routine prenatal ultrasonography. WNT3 is the only gene in which pathogenic variants are known to cause tetra-amelia syndrome. The variant detection frequency is unknown as only a limited number of families have been studied.


Affected infants are often stillborn or die shortly after birth. Management of (as yet unreported) persons who survive will depend on the presence and severity of associated malformations and require the support of several medical disciplines.

Genetic counseling.

Tetra-amelia syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Heterozygotes (carriers) are asymptomatic. Prenatal testing by molecular genetic testing is possible if the pathogenic variants in WNT3 have been identified in an affected family member.


Clinical Diagnosis

Tetra-amelia is characterized by the (complete) absence of all four limbs (Figure 1). The diagnosis of tetra-amelia can be established clinically and is usually made on routine prenatal ultrasonography (Figure 2).

Figure 1.

Figure 1.

Postmortem radiograph of fetus with tetra-amelia syndrome demonstrating absence of all four limbs (without defects of scapulae and clavicles)

Figure 2.

Figure 2.

Prenatal ultrasonography showing fetus without limbs

In the few families described to date, tetra-amelia was associated with craniofacial, urogenital, cardiopulmonary, nervous system, and skeletal malformations, in which instance the correct terminology should be tetra-amelia syndrome.


Cytogenetic analyses, performed in some of the reported cases, showed normal karyotypes without ‘premature centromere separation’ (see Roberts syndrome).

Molecular Genetic Testing

Gene. WNT3 is the only gene in which pathogenic variants are known to cause tetra-amelia syndrome in one family [Niemann et al 2004].

Evidence for locus heterogeneity. Genetic heterogeneity of tetra-amelia syndrome is strongly suggested by Krahn et al [2005] and Sousa et al [2008], who described fetuses with tetra-amelia, agenesis of both lungs, cleft lip/cleft palate, and micrognathia in whom no pathogenic variants were identified in the coding exon regions of WNT3 and other candidate genes (see Molecular Genetics).

Clinical testing

Table 1.

Summary of Molecular Genetic Testing Used in Tetra-Amelia Syndrome

Gene 1Test MethodVariants Detected 2Variant Detection Frequency by Test Method 3
WNT3Sequence analysis 4p.Gln83Ter
(c.247C>T) 5
Unknown 6
Deletion/duplication analysis 7(Multi)exon or whole-gene deletion/duplicationUnknown; none reported 8

See Molecular Genetics for information on allelic variants.


The ability of the test method used to detect a variant that is present in the indicated gene


Examples of pathogenic variants detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Only one family studied to date [Niemann et al 2004]


Percentage of detectable pathogenic variants is unknown, as a WNT3 pathogenic variant has so far been demonstrated in only one family with tetra-amelia syndrome [Niemann et al 2004].


Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.


No deletions or duplications of WNT3 have been reported to cause tetra-amelia syndrome. (Note: By definition, deletion/duplication analysis identifies rearrangements that are not identifiable by sequence analysis of genomic DNA.)

Testing Strategy

To confirm the diagnosis in a proband, sequence analysis of WNT3 can be performed; however, the variant detection frequency is unknown because to date only one family with tetra-amelia syndrome has been reported to have a pathogenic variant in WNT3.

Carrier testing for at-risk relatives requires prior identification of the pathogenic variants in the family.

Note: Carriers are heterozygotes for an autosomal recessive disorder and are not at risk of developing the disorder.

Prenatal diagnosis and preimplantation genetic diagnosis for at-risk pregnancies require prior identification of the pathogenic variants in the family.

Clinical Characteristics

Clinical Description

In addition to complete absence of all four extremities, phenotypic manifestations of tetra-amelia syndrome in affected individuals may include craniofacial, urogenital, cardiopulmonary, nervous system, and skeletal malformations. The following list is based on the findings in the affected individuals in the few families reported [Zimmer et al 1985, Gershoni-Baruch et al 1990, Rosenak et al 1991, Zlotogora et al 1993, Başaran et al 1994, Ohdo et al 1994, Niemann et al 2004, Krahn et al 2005, Sousa et al 2008].

While the affected individuals in these families have all had similar findings, a mutation in WNT3 was only identified in the family reported by Niemann et al [2004]. With the exception of the family reported by Krahn et al [2005] and Sousa et al [2008], no molecular studies were undertaken in the other families. Therefore, in the absence of molecular genetic information to suggest subtypes of tetra-amelia syndrome, all reported cases are grouped together in this review. The findings in the family with a WNT3 pathogenic variant are compared in Table 2 with the findings in families in which no molecular studies were undertaken or no WNT3 pathogenic variant was identified.


  • Eyes. Microphthalmia, cataract, microcornea, coloboma, palpebral fusion
  • Ears. Absence of external ears (microtia), low-set ears
  • Nose. Single naris, choanal atresia, prominent nose, absence of nose
  • Mouth. Cleft lip/cleft palate, high and narrow palate, macrostomia, micrognathia


  • Agenesis of kidney
  • Rudimentary ovary and salpinx
  • Persistence of cloaca
  • Atresia of vagina
  • Atresia of anus
  • Atresia of urethra
  • Hypospadias
  • Absence of external genitalia
  • Ambiguous genitalia
  • Absence of scrotum
  • Intra-abdominal location of testis


  • Hypoplasia/aplasia of lungs, bilobular right lung
  • Hypoplasia/aplasia of pulmonary vessels
  • Diaphragmatic defect
  • Ventricular septal defect
  • Small right heart
  • Mitral valve aplasia


  • Hypoplasia/absence of pelvic bones
  • Absence of vertebra
  • Absence of rib


  • Agenesis of olfactory nerves
  • Agenesis of optic nerves
  • Agenesis of corpus callosum
  • Hydrocephalus


  • Polyhydramnios
  • Absence of nipples
  • Gastroschisis
  • Agenesis of suprarenal gland
  • Agenesis of spleen

Table 2.

Clinical and Autopsy Findings in Families with Tetra-Amelia

Zimmer et al [1985], Gershoni-Baruch et al [1990]Rosenak et al [1991]Zlotogora et al [1993]Başaran et al [1994]Niemann et al [2004]Krahn et al [2005]Sousa et al [2008]Ragavan et al [2010]
Cleft lip/cleft palate+++++++-
Ear malformationAbsent+-
Eye malformation+++-
Nose malformationAbsent+-
Mouth malformation+-
Heart malformation?++-
Pulmonary defects+Hypoplasia / aplasia?Aplasia++AplasiaHypoplasia
Pulmonary arteriesHypoplasia???Aplasia-
Diaphragmatic defect?+-
Pelvic bonesHypoplasia / aplasia?Hypoplasia-
Other skeletal defectsAbsent vertebrae and ribs?-
Renal malformation?Agenesis-
Genital malformation+?+++
Anal atresia++-
Other CNS defectsAgenesis of olfactory and optic nerves, corpus callosum?-
Cases −

Data on the course of the disease or the prognosis are not available because the condition is rare. In nearly all reported cases, the pregnancy was terminated on diagnosis of tetra-amelia syndrome, or infants died shortly after birth as a consequence of other malformations such as pulmonary hypoplasia. Limb agenesis is generally compatible with life if adequate assistance is provided. The natural history of the disease is likely to be determined by extent and degree of associated manifestations.

Note: An X-linked form of tetra-amelia, also termed "Zimmer phocomelia”, has been suggested for the family reported by Zimmer [Zimmer et al 1985, Gershoni-Baruch et al 1990] since all affected fetuses in this family were male connected only through female relatives. However, extensive consanguinity in this family and the fact that the gender may have been incorrectly assigned in some fetuses also suggested autosomal recessive inheritance [Gershoni-Baruch et al 1990]. (For more information see Differential Diagnosis, X-linked tetra-amelia.)

Genotype-Phenotype Correlations

To date no genotype-phenotype correlations have been established.


Based on the few reports, penetrance appears to be complete with respect to absence of the limbs and incomplete with respect to the associated malformations. Expressivity of the associated manifestations is highly variable.


In all cases reported so far, tetra-amelia was associated with other malformations, as ‘tetra-amelia syndrome’. However, there is evidence that tetra-amelia may occur as ‘pure tetra-amelia’ (or ‘isolated tetra-amelia’) without other anomalies [personal communication].

Note: Some reports in the literature that refer to ‘tetra-amelia’ describe cases with different combinations of (di-, tri-) phocomelia/-amelia. These cases do not represent true tetra-amelia, which is defined by the (complete) absence of all four limbs.


Tetra-amelia syndrome is an extremely rare disorder and has so far been described in only five families of different ethnic backgrounds (Arab, Moroccan, Syrian-Aramaic). No estimates of prevalence and carrier frequency for tetra-amelia syndrome have been reported.

Parental consanguinity appears to account for at least some of the few cases reported to date.

Differential Diagnosis

Many of the associated phenotypic manifestations observed in tetra-amelia syndrome have also been observed in other syndromes. Limb deficiency as the hallmark of the disorder may occur in limb reduction syndromes different from tetra-amelia syndrome. In these syndromes, limb defects are variable and include phocomelia, amelia, and (rarely) tetra-amelia. The finding of several individuals with (complete) absence of all four extremities in a family is highly suggestive of tetra-amelia syndrome.

  • Tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities (OMIM), characterized by tetra-amelia, hypotrichosis, hypoplastic lacrimal ducts and sacs opening to the exterior, lack of lacrimal openings, upward slanting palpebral fissures, and bilateral preauricular pits. One of two affected sibs in the family described by Ohdo et al [1987] had complete absence of both lower limbs and the left upper limb, and hypomelia of the right upper limb with approximately 3 cm of humerus. The other affected sib had (complete) tetra-amelia [Ohdo et al 1987].
  • X-linked tetra-amelia (Zimmer phocomelia) characterized by absence of all four limbs, absence/hypoplasia of pelvic bones, absence of vertebrae, absence of ribs, ‘bilateral’ left lung/hypoplasia of lungs, absence of nipples, cleft lip, microphthalmia, microcornea, cataract, coloboma, microcornea, absence of nose and external ears, and nonfusion of maxillae. Other findings include hydrocephalus, agenesis of olfactory nerves, agenesis of optic nerves, agenesis of the corpus callosum, empty scrotal sacs, anal atresia, and communication of rectum and urinary bladder [Zimmer et al 1985, Gershoni-Baruch et al 1990]. X-linked inheritance in this family has later been questioned since the gender of some fetuses may have been incorrectly assigned and because of the presence of multiple consanguinity in the family, indicating autosomal recessive inheritance [Kosaki et al 1996].


Evaluations Following Initial Diagnosis

Tetra-amelia syndrome is usually diagnosed prenatally. Based on the few published reports, assessment of the clinical manifestations in a fetus diagnosed with tetra-amelia syndrome by ultrasonography should include careful assessment of all organs and body structures that are known to be affected in tetra-amelia syndrome.

Treatment of Manifestations

In nearly all reported cases, the pregnancy was terminated on diagnosis of tetra-amelia syndrome or infants died shortly after birth as a consequence of other malformations including pulmonary hypoplasia. Data on the management of tetra-amelia syndrome therefore do not exist.

It should be noted that (complete) absence of all extremities is principally not incompatible with life. Persons without extremities depend on extensive, life-long assistance with most daily activities. They would require specifically designed wheelchairs with assistive electronic technology and input control devices operated by head, chin, or tongue movements. Other individualized ambulatory devices may be indicated.

Should individuals with tetra-amelia syndrome survive, management depends on the presence and severity of associated malformations and may involve multiple interdisciplinary surgical interventions and the support of several medical disciplines.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Tetra-amelia syndrome is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected child are obligate heterozygotes and therefore carry one mutant allele.
  • Heterozygotes (carriers) are asymptomatic.

Sibs of a proband

  • At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
  • Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3.
  • Heterozygotes (carriers) are asymptomatic.

Offspring of a proband. To date, no individuals with tetra-amelia syndrome have survived to reproduce.

Other family members of a proband. Each sib of the proband’s parents is at a 50% risk of being a carrier.

Carrier Detection

Carrier testing for at-risk family members and their reproductive partners is possible once the pathogenic variants have been identified in the proband.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are at risk of being carriers.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Diagnosis

Once the WNT3 pathogenic variants have been identified in an affected family member, prenatal diagnosis and preimplantation genetic diagnosis for a pregnancy at increased risk for tetra-amelia syndrome are possible options. Although such testing can determine whether a fetus is homozygous for WNT3 pathogenic variants, it may not be required as the accurate diagnosis of limb agenesis should be possible by ultrasonography.

Ultrasound examination is recommended to assess the fetus for the presence and degree of malformations in other organs and structures affected in tetra-amelia syndrome.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • Compassionate Friends
    Supporting Family After a Child Dies
    PO Box 3696
    Oak Brook IL 60522
    Phone: 877-969-0010 (toll free); 630-990-0010
    Fax: 630-990-0246
  • Helping After Neonatal Death (HAND)
    PO Box 341
    Los Gatos CA 95031
    Phone: 888-908-HAND (4263)

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Tetra-Amelia Syndrome: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
WNT317q21​.31-q21.32Proto-oncogene Wnt-3WNT3 databaseWNT3WNT3

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Tetra-Amelia Syndrome (View All in OMIM)


Molecular Genetic Pathogenesis

One family with tetra-amelia syndrome with a pathogenic variant in WNT3 has been identified. However, genetic heterogeneity of tetra-amelia syndrome is suggested by Krahn et al [2005] and Sousa et al [2008]. Krahn et al [2005] described two sibs, born to a consanguineous family, with tetra-amelia and bilateral lung agenesis. Sousa et al [2008] reported a fetus with tetra-amelia, cleft lip/palate, bilateral lung agenesis with bilateral pulmonary artery agenesis and a small right heart. No pathogenic variant was identified by molecular analysis of the coding regions of WNT3 and of candidate genes HS6ST1, HS6ST3.

Gene structure. WNT3 comprises five exons spanning 54.2 kb of genomic sequence; it encodes a transcript of 1506 nt (NM_030753.3). The 1068-nt open reading frame starts in exon 1 and terminates with a TAG stop codon in exon 4, encoding a protein of 355 amino acids. For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. The NM_030753.3:c.247C>T (p.Gln83Ter) substitution, identified in a single family with tetra-amelia syndrome, is the only causative variant reported to date. The nonsense variant at codon 83 creates a premature stop codon. The mutated transcript, unless rapidly degraded by nonsense-mediated RNA decay, is likely to result in a truncated protein of only 82 amino acids (including the signal peptide of 21 amino acids) instead of 355 amino acids of the mature peptide.

Normal gene product. Proto-oncogene Wnt-3 (WNT3) is one of 19 members of the human WNT superfamily of highly conserved secreted signaling molecules that play key roles in embryonic development [Wodarz & Nusse 1998, Moon et al 2004]. Work in animal models supports the role of WNT3 signaling in the initiation of the formation of the apical ectodermal ridge, a transient structure in the embryonic limb bud critical for limb outgrowth.

WNTs act as ligands for the frizzled family of transmembrane receptors. Intracellularly, WNT signals can be transduced through a β-catenin-dependent (= canonical) and a β-catenin-independent (non-canonical) WNT signaling. In the WNT/β-catenin pathway, absence of WNT ligand leads to degradation of β-catenin by the proteasome. Conversely, upon binding of WNT ligand to frizzled, degradation of β-catenin is decreased and it accumulates in the nucleus where it can activate transcription.

Abnormal gene product. The p.Gln83Ter variant leads either to rapid degradation by RNA surveillance mechanisms or to truncation of WNT3 at its amino terminus and is, in either case, likely to result in a null allele for WNT3. Loss of function of WNT3 in tetra-amelia syndrome supports the role of WNT3 as a limb-inducing gene in humans.


Literature Cited

  • Başaran S, Yuksel A, Ermis H, Kuseyri F, Agan M, Yuksel-Apak M. Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome? Am J Med Genet. 1994;51:77–80. [PubMed: 8030673]
  • Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M. A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. Am J Med Genet A. 2011;155A:599–604. [PubMed: 21344627]
  • Gershoni-Baruch R, Drugan A, Bronshtein M, Zimmer EZ. Roberts syndrome or "X-linked amelia"? Am J Med Genet. 1990;37:569–72. [PubMed: 2260610]
  • Kosaki K, Jones MC, Stayboldt C. Zimmer phocomelia: delineation by principal coordinate analysis. Am J Med Genet. 1996;66:55–9. [PubMed: 8957512]
  • Krahn M, Julia S, Sigaudy S, Liprandi A, Bernard R, Gonnet K, Heuertz S, Bonaventure J, Chau C, Fredouille C, Levy N, Philip N. Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes. Clin Genet. 2005;68:558–60. [PubMed: 16283889]
  • Moon RT, Kohn AD, De Ferrari GV, Kaykas A. WNT and beta-catenin signalling: diseases and therapies. Nat Rev Genet. 2004;5:691–701. [PubMed: 15372092]
  • Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Muller U. Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 2004;74:558–63. [PMC free article: PMC1182269] [PubMed: 14872406]
  • Ohdo S, Madokoro H, Sonoda T, Takei M, Yasuda H, Mori N. Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation. J Med Genet. 1987;24:609–12. [PMC free article: PMC1050288] [PubMed: 3681906]
  • Ohdo S, Sonoda T, Ohba K. Natural history and postmortem anatomy of a patient with tetra-amelia, ectodermal dysplasia, peculiar face, and developmental retardation (MIM 273390). J Med Genet. 1994;31:980–1. [PMC free article: PMC1016707] [PubMed: 7534355]
  • Ragavan M, Reddy S, Kumar C. Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases. Pediatr Surg Int. 2010;26:1049–52. [PubMed: 20625748]
  • Rosenak D, Ariel I, Arnon J, Diamant YZ, Ben Chetrit A, Nadjari M, Zilberman R, Yaffe H, Cohen T, Ornoy A. Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs. Am J Med Genet. 1991;38:25–8. [PubMed: 2012129]
  • 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. Tetra-amelia and lung hypo/aplasia syndrome: new case report and review. Am J Med Genet. 2008;146A:2799–803. [PubMed: 18837045]
  • Wodarz A, Nusse R. Mechanisms of Wnt signaling in development. Annu Rev Cell Dev Biol. 1998;14:59–88. [PubMed: 9891778]
  • Zimmer EZ, Taub E, Sova Y, Divon MY, Pery M, Peretz BA. Tetra-amelia with multiple malformations in six male fetuses of one kindred. Eur J Pediatr. 1985;144:412–4. [PubMed: 4076260]
  • Zlotogora J, Sagi M, Shabany YO, Jarallah RY. Syndrome of tetraamelia with pulmonary hypoplasia. Am J Med Genet. 1993;47:570–1. [PubMed: 8256824]

Chapter Notes

Revision History

  • 2 August 2012 (me) Comprehensive update posted live
  • 28 August 2007 (me) Review posted to live Web site
  • 2 May 2007 (sn) Original submission
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