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Copyright V. Ventruto / A. Di Luccio Genus database 27010 WT syndrome Eponyms: Inheritance: blood-limb syndrome Fanconi-like radioulnar hypoplasiahypoplastic anemia limb-blood syndrome autosomal dominant Semeiological Hemato-skeletal disorder. Severe hypoplastic anemia, pancytopenia, skeletal anomalies, other defects, propensity for leukemia, no chomosome breakages. Synthesis: Group Sub group Signs: DERMATOLOGICAL DISORDERS cutis, nodules cutis, nodules; skin polyps; warty, verrucous lesions pigmentation changes cutis, hyperpigmentation HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS coagulation disorders, including platelet changes hemorrhage, ecchymoses, bleeding diathesis, purpura thrombopenia, thrombopathy, platelet reduction, thrombocytopenia LABORATORY DATA biochemical markers metabolic defect chromosomal disorders chromosomal fragility, instability, breakage chromosome breakage syndromes granulocytes, changes granulocytes, reduction absence, neutropenia infective agents bacterial infections myelo-erythropoietic disorders anaemia, no haemolytic bone marrow, changes plasma proteins, anomalies immunodefects, humoral B-cell immunological disorders NEOPLASTIC DISEASES cancer, genetic features tumour susceptibility OTHERS inheritance inheritance, autosomal dominant PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic SKELETAL DISORDERS fingers, defects ectrodactyly, adactyly, oligodactyly radioulnar changes radius, short, hypoplastic radius stature, growth, modified habitus stature, short, including micromelia, including short limbs syndactyly WT syndrome Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database syndactyly, in syndromic association thumb-hallux, anomalies thumb-toes, short, hypoplastic Super group: hemato-skeletal disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by ultrasound techniques Aggregations: INFECTIONS SUSCEPTIBILITY immunodefects, humoral B-cell METABOLIC DISORDERS immunological disorders NEOPLASTIC DISORDERS tumour, susceptibility OTHER chromosome-breakage syndromes Differential diagnosis: Bibliography WT syndrome 7920 dyskeratosis congenita 28831 dyskeratosis, congenita, autosomal recessive type 9310 Fanconi pancytopenia, type 1 OMIM ID: 194350 Page 2 of 2
