Tetra-Amelia, Autosomal Recessive

Alternative Names

  • Autosomal Recessive Tetra-Amelia
  • Autosomal Recessive Tetraamelia
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Tetra-amelia is a very rare disorder that is characterized by congenital absence of all four limbs. Tetra-amelia is most commonly caused by teratogens. However, it can be also inherited.

It is thought that mutation in the wingless-type MMTV integration site family member 3 (WNT3) gene is responsible for causing tetra-amelia in humans. Moreover, studies showed that WNT3 gene not only plays an important role in early limb development, but also participates in the development of other organs.

Epidemiology in the Arab World

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Other Reports


Zimmer et al. (1985) described An Arab Moslem kindred with six abnormal male fetuses born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. 


Megarbane et al. (1997) explored a male with amelia of the lower limbs and peromelia of the upper limbs and a syrinx. The parents were healthy non-consanguineous Christians who had another normal boy. There was no evidence of exposure to teratogens. 


Krahn et al.(2005) described two sibs with tetraamelia and severe lung hypoplasia. Parents were consanguniseous.


Rosenak et al. (1991) described a term amelic female infant who was born to an apparently non-consanguineous Arab Muslim couple. In two subsequent pregnancies, two amelic fetuses were diagnosed by transabdominal ultrasonography in the 18th and 12th week of gestation.

Zlotogora et al. (1993) reported two Arab families with Tera Amelia.  Cleft lip or hydrocephalus was found in some of the patients.

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