TAR Syndrome

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Synonyms: t hrombocytopenia with a bsent r adius (hence TAR) syndrome, tetraphocomelia-thrombocytopenia syndrome

  • This is a rare autosomal recessive condition.
  • The prevalence is estimated at 0.5-1 in 100,000.[1]
  • Fanconi's syndrome
  • Holt-Oram syndrome - abnormalities of the upper limbs and heart.
  • RAPADILINO syndrome (relating to: radial hypoplasia/aplasia, patellar hypoplasia/aplasia, cleft or highly arched palate, diarrhoea, dislocated joints, small stature and other abnormalities).
  • Roberts' syndrome - prenatal and postnatal growth restriction, craniofacial anomalies, limb deficiencies and genital hyperplasia.
  • Trisomy 18 (Edwards' syndrome).
  • VACTERL association (= V ertebral defects, A norectal malformations, C ardiovascular defects, T racheo-oesophageal defects, (o)E sophageal atresia, R enal abnormalities, L imb deformities) - a syndrome of congenital anomalies including vertebral dysgenesis and renal and limb anomalies.

Laboratory tests[3]

  • FBC may show:
    • Low platelet count - 15-30 x 109/L.
    • Eosinophilia (in 50% of patients).
    • Leukocytosis - WBC greater than 35 x 109/L with left shift, leukaemoid reaction.
    • Anaemia secondary to bleeding.
  • Genetic tests - although thought to be an autosomal recessive condition, genetic testing is usually normal, helping differentiation from other congenital conditions (see Differential diagnosis, above)


Ultrasound - transvaginal ultrasound can pick up skeletal involvement as early as 13 weeks of gestation. The presence of radial aplasia signals the need to scan for abnormalities of the face, extremities and kidneys to differentiate this condition from other syndromes.[4]


  • Cordocentesis for fetal sampling may detect thrombocytopenia prenatally.[4] The risks are:
    • 1-2% fetal loss.
    • Prolonged bleeding from the puncture site.
  • Bone marrow sampling may reveal:
    • Normal or hypercellular bone marrow.
    • Decreased, absent, or immature megakaryocytes.
    • Small, basophilic, vacuolated megakaryocytes.
    • Erythroid hyperplasia.


  • Prenatal transfusion of platelets has successfully been carried out on a fetus identified as having severe thrombocytopenia on cordocentesis.[6]
  • General measures to reduce the risk of bleeding should be taken if the platelet count drops below 80 x 109/L.[3] These include:
    • Avoidance of trauma, eg children should wear a soft helmet.
    • Avoidance of antiplatelet medication, egaspirin and non-steroidal anti-inflammatory drugs (NSAIDs).
    • Prolonged pressure on injection sites.
  • Acute bleeding from a limb injury should be treated with pressure and limb elevation. The patient should be kept warm and conveyed to hospital as soon as possible.
  • Platelet transfusion should be considered if the risk of transfusion (infection, anaphylaxis, haemolytic reaction) is superseded by the risk of significant bleeding.[3] The guideline (taken from thrombocytopenia management) is a platelet count below 40 x 109).
  • Leukocyte-reduced platelet concentrations may be indicated in patients at risk of severe bleeding.
  • Patients who do not respond to transfusion may be helped by HLA-matched platelets from family members, although this does not guarantee success, as non-HLA antigen reactions may occur.
  • Bone marrow transplantation should be considered for patients resistant to platelet transfusions.

Other measures

  • Physiotherapy and occupational therapy may help to improve function.
  • Surgical correction of deformities may be necessary. This is sometimes preceded by splinting of the affected part to improve function.
  • If surgery is not possible the goal should be to improve independence and functioning as much as possible. Adaptive devices and aids may be needed to help with washing, dressing and feeding.
  • Prostheses are generally not helpful due to muscular weakness.
  • Splenectomy is usually an effective cure for thrombocytopenia persisting into adulthood.

Complications are usually related to haemorrhage, especially intracranial haemorrhage.

  • If patients survive the first two years of life, the life expectancy is normal.
  • The main cause of mortality is haemorrhage.
  • Bleeding, especially intracranial haemorrhage, may result in significant morbidity.
  • The prognosis regarding hand and upper extremity function is usually good, providing radial aplasia is the only skeletal abnormality.

Genetic counselling and early prenatal diagnosis raises the possibility of termination should the fetus be shown to be affected.[7] A technique called array comparative genomic hybridisation - a method of assessing the errors in DNA reproduction associated with the condition - has considerably assisted the genetic counselling process.[8]

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Original Author:
Dr Laurence Knott
Current Version:
Dr Hayley Willacy
Document ID:
1729 (v23)
Last Checked:
20 April 2011
Next Review:
18 April 2016

Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. Patient Platform Limited has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.