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GTR Home > Tests > Thrombocytopenia-absent radius syndrome, 274000, Autosomal recessive; TAR (Thrombocytopenia-absent radius syndrome) (440)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Anemia
  • Coarctation of aorta
  • Ptosis
  • Clubfoot
  • Corneal opacity
  • Patent ductus arteriosus
  • Eosinophilia
  • Atrial septal defect
  • Ventricular septal defect
  • Hepatosplenomegaly
  • Hip dislocation
  • Leukocytosis
  • Meckel diverticulum
  • Micrognathia
  • Pancreatic cysts
  • Phocomelia
  • Seborrheic dermatitis
  • Seizure
  • Strabismus
  • Syringomyelia
  • Tetralogy of Fallot
  • Thrombocytopenia
  • Vesicoureteral reflux
  • Spina bifida
  • Cataract
  • Cervical rib
  • Finger syndactyly
  • Horseshoe kidney
  • Brachycephaly
  • Ureteral duplication
  • Renal malrotation
  • Coxa valga
  • Ulnar deviation of the hand
  • Cerebellar hypoplasia
  • Dilatation of the renal pelvis
  • Short stature
  • Aplasia of the uterus
  • Lateral clavicle hook
  • Broad thumb
  • Tibial torsion
  • Carpal synostosis
  • Thumbs, congenital Clasped
  • Short thumb
  • Genu varum
  • Global developmental delay
  • Radial deviation of the hand
  • Hypoplasia of the radius
  • Short phalanx of finger
  • Patellar dislocation
  • Atrioventricular canal defect
  • Absent radius
  • Fibular aplasia
  • Anteverted nares
  • Cerebellar vermis hypoplasia
  • Cavum septum pellucidum
  • Bilateral radial aplasia
  • Nevus flammeus of the forehead
  • Clinodactyly of the 5th finger
  • Motor delay
  • Malar flattening
  • Facial capillary hemangioma
  • Femoral bowing
  • Hypoplasia of the ulna
  • Carpal bone hypoplasia
  • Ulnar bowing
  • Patellar aplasia
  • Shoulder muscle hypoplasia
  • Edema of the dorsum of hands
  • Edema of the dorsum of feet
  • Cleft palate
  • Absent thumb
  • Intellectual disability
  • Fused cervical vertebrae
  • Delayed CNS myelination
  • Prolonged bleeding following circumcision
  • Aplasia/hypoplasia of the humerus
  • Axial malrotation of the kidney
  • Abnormal shoulder morphology
  • Decreased circulating antibody level
  • Short forearm
  • Cow milk allergy
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Thrombocytopenia-absent radius syndrome, 274000, Autosomal recessive; TAR (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

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Clinical validity

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Not provided

Clinical utility

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