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Cleft palate short stature vertebral anomalies syndrome
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    Cleft palate short stature vertebral anomalies syndrome

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    Cleft palate-short stature-vertebral anomalies syndrome
    Other names Mathieu-De Broca-Bony syndrome
    Specialty Medical genetics
    Symptoms Vertebral anomalies, intellectual disabilities, short stature, cleft palate
    Usual onset Birth
    Duration Life-long
    Causes Autosomal dominant inheritance
    Prevention none
    Prognosis Good
    Frequency very rare, only 2 cases from one family have been recorded in medical literature

    Cleft palate short stature vertebral anomalies, also known as Mathieu-De Broca-Bony syndrome, is a very rare multi-systemic genetic disorder which is characterized by congenital cleft palate, facial dysmorphisms, short stature and neck, vertebral abnormalities and intellectual disabilities. It is thought to be inherited in an autosomal dominant fashion.

    Presentation

    People with this disorder usually show the following symptoms:

    Etiology

    This disorder was first discovered in 1993 by M Mathieu et al., when they described an adult man and his (also affected) son with the symptoms mentioned above, since then, no other cases of the disorder have been described in medical literature.


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