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.[1][2] It is thought to be inherited in an autosomal dominant fashion.[3]
^RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Search a disease". www.orpha.net. Retrieved 2022-05-19.{{cite web}}: CS1 maint: numeric names: authors list (link)
^"Cleft palate short stature vertebral anomalies - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-19.
^"Cleft palate with short stature and vertebral anomaly syndrome (Concept Id: C4304704) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-19.
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