It is characterized by macrothrombocytopenia, developmental delay, dysmorphic facies, and deafness. Facial features include hypertelorism, up-slanting palpebral fissures, low-set and small auricles, short philtrum, thin vermillion border, flat nasal bridge, and micrognathia.
Lymphopenia with resulting immunodeficiency, structural brain abnormalities, vascular malformations (liver hemangiomas), aortic aneurysms, splenomegaly, autoimmune hemolytic anemia, hypothyroidism, systemic inflammation, myelofibrosis, lymphedema, and eczema have been reported. Camptodactyly and clinodactyly may also be observed.
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
1172685001 – Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
Differential Diagnosis & Pitfalls