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Background Emberger syndrome is caused by mutation in GATA2 and predisposes to myelodysplastic syndrome (MDS)/acute myelogenous leukaemia (AML), lymphedema, warts, subtle dysmorphic features, and, rarely, congenital anomalies. Objectives To describe the heterogeneity associated with GATA2 mutation and highlight features that should prompt testing. Design/methods Case report of 2 families with mutation-confirmed Emberger syndrome. Results Family 1: The proband presented with warts and mouth ulcers. WHIM syndrome was considered when neutropenia and B-cell deficiency developed, despite negative CXCR4 testing. Years later, the patient developed AML with monosomy 7 and underwent chemotherapy and stem cell transplantation. Idiopathic leg lymphedema occurred. Family history was significant for warts. Re-examination identified subtle dysmorphisms. GATA2 sequencing detected a missense mutation. Family 2: Sibling 1 had a history of warts, mouth ulcers, ectopic anus, mild sensorineural hearing loss, and new-onset neutropenia. Bone marrow testing diagnosed MDS with monosomy 7. Sibling 2 had hypocellular, mildly dysplastic bone marrow. History included warts and leg lymphedema. Sibling 3 had mild bone marrow hypocellularity. Family history was significant for a parent with childhood warts and mouth ulcers. Siblings 1–3 had subtle dysmorphisms. GATA2 sequencing identified a nonsense mutation. Sibling 1 underwent stem cell transplantation. Siblings 2–3 are closely monitored. Conclusions The literature is biassed towards individuals who present with overt haematological malignancies; however, Emberger syndrome can be recognised earlier. Suspicion should be high in individuals with persistent hematologic/immunologic abnormalities, warts refractory to treatment, and/or lymphedema particularly in the setting of subtle, but typical, dysmorphisms. Intervention before development of AML decreases morbidity/mortality.

We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families. Flexion deformities of the knees and hips with club feet and absent patellae were consistently observed and scrotal hypoplasia and cryptorchidism were present in all boys (6/6). Dysmorphic features included a coarse face, a large nose with a high nasal bridge, and microcephaly. Other features included renal anomalies (multicystic kidneys or hydronephrosis, 7/7), agenesis of the corpus callosum (4/7), swallowing difficulties, micrognathia (4/7), and pulmonary hypoplasia (3/7). Bilateral hypoplasia of the ischia and brachydactyly were also consistently observed (5/5). In two out of seven cases, prenatal ultrasound detection of microcephaly and renal anomalies led to termination of the pregnancy at 27 weeks. Three children died during the first years of life and the remaining two who survived exhibit severe developmental delay. High resolution cytogenetic studies performed on lymphocytes or fibroblasts or both were normal in all cases. Recurrence in two families suggests an autosomal recessive mode of inheritance. We propose that this unusual association, similar to that observed in a 4 year old boy by Goldblatt et al, represents a new syndrome distinct from previously reported hypoplastic patella syndromes.