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MedGen UID:
Concept ID:
Congenital Abnormality; Finding
Synonym: Tetra-amelia
SNOMED CT: Tetra-amelia syndrome (702313004)
HPO: HP:0003057
Monarch Initiative: MONDO:0017439
Orphanet: ORPHA294971


Amelia of all four limbs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTetraamelia

Conditions with this feature

Odontotrichomelic syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970.
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
MedGen UID:
Concept ID:
Disease or Syndrome
Tetraamelia syndrome 1
MedGen UID:
Concept ID:
Disease or Syndrome
Tetraamelia syndrome-1 (TETAMS1) is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndrome Tetraamelia syndrome-2 (TETAMS2; 618021) is caused by mutation in the RSPO2 gene (610575) on chromosome 8q23.

Recent clinical studies


Vadi MG, Ghazal EA, Malkin MR, Ayodeji A, Applegate RL 2nd
A A Case Rep 2016 Sep 15;7(6):123-4. doi: 10.1213/XAA.0000000000000361. PMID: 27513971
Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M
Am J Med Genet A 2011 Mar;155A(3):599-604. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33717. PMID: 21344627
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
de Ravel TJ, Seftel MD, Wright CA
Am J Med Genet 1997 Jan 20;68(2):185-9. doi: 10.1002/(sici)1096-8628(19970120)68:2<185::aid-ajmg13>3.0.co;2-q. PMID: 9028456
Rosenak D, Ariel I, Arnon J, Diamant YZ, Ben Chetrit A, Nadjari M, Zilberman R, Yaffe H, Cohen T, Ornoy A
Am J Med Genet 1991 Jan;38(1):25-8. doi: 10.1002/ajmg.1320380107. PMID: 2012129


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


Ragavan M, Reddy S, Kumar C
Pediatr Surg Int 2010 Oct;26(10):1049-52. doi: 10.1007/s00383-010-2656-8. PMID: 20625748
Song SY, Chi JG
Clin Genet 1996 Dec;50(6):502-4. doi: 10.1111/j.1399-0004.1996.tb02722.x. PMID: 9147883

Clinical prediction guides

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

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