Synonyms: Takenouchi-Kosaki syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay intellectual disability macrothrombocytopenia lymphedema and dysmorphic facial features (like synophrys ptosis eversion of the lateral portion of the lower eyelid and thin upper lip among others). Additional reported manifestations include cardiac and genitourinary anomalies sensorineural hearing loss ophthalmologic abnormalities skeletal anomalies and immunodeficiency. Brain imaging may show enlarged ventricles cerebellar atrophy or white matter changes.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2026
Newly diagnosed with
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome?
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Advocacy Organizations
Bleeding Disorders Alliance Illinois
The Bleeding Disorders Alliance Illinois exists to improve the quality of life for the inherited bleeding disorders community by supporting individuals and their families with unbiased information and resources which allows them to live healthy and active lives.
Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN)
As the research-based umbrella organization for all vascular anomalies, we are on a mission to develop a unified network of patients and their families, advocates, researchers, and clinicians who influence research from initial concept and design to patient care delivery
Hemophilia Foundation of Southern California
“Improving the quality of life and building community for those living with inherited bleeding disorders in Southern California.”
National Center of Hematology and Blood Transfusion
Treatment of patients with blood diseases,scientific-research works
Project FAVA
Project FAVA is a 501(c)(3) non-profit patient advocacy group that promotes awareness of fibro-adipose vascular anomalies, educates patients, their families, and the global community, and provides helpful resources to those with FAVA. Project FAVA also advances research to move the needle towards more effective and less invasive treatment options for FAVA patients.
Save One Life, Inc
Empowering individuals and families affected by bleeding disorders in developing countries through direct financial assistance and access to medical treatment.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.