| Syndrome | Inheritance | Associated Conditions | Diagnosis |
|---|---|---|---|
| Thrombocytopaenia absent radius | Complex Autosomal Recessive [13, 14] | Absent radius with normal thumb Thrombocytopaenia and anaemia (improves in first year of life) | Absent radii, thumbs present and platelet count < 50x109/L |
| Fanconi’s Anaemia | Autosomal Recessive | Pancytopaenia between 5-10y of age | Early diagnosis cal be made using chromosomal breakage studies (diepoxybutane or mitomycin C) |
| VACTERL | Sporadic | V À Verbebral A À Anal atresia C À Cardiac anomalies TE ÀTracheosophageal fistula R À Renal agenesis L À Limb anomalies |
Clinical Exclusion of overlapping syndromes [15] |
| Holt-Oram | Autosomal dominant | Cardiac conduction or structural anomalies Generalised upper limb anomalies | Clinical (TBX5 genotyping (Ch12)*) |