Cleft palate short stature vertebral anomalies syndrome

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.[1][2] It is thought to be inherited in an autosomal dominant fashion.[3]

Presentation

People with this disorder usually show the following symptoms:[4][5]

• Cleft palate
• Facial asymmetry
• Epicanthal folds
• Short nose
• Anteverted nostrils
• Low-set ears
• Reduced thickness of upper lip
• Micrognathism
• Short stature
• Short neck
• Vertebral abnormalities
• Intellectual disabilities
• Single transversal palmar line

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.[6]

References

1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Search a disease". www.orpha.net. Retrieved 2022-05-19.
2. "Cleft palate short stature vertebral anomalies - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-19.
3. "Cleft palate with short stature and vertebral anomaly syndrome (Concept Id: C4304704) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-19.
4. "Cleft palate short stature vertebral anomalies - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-19.
5. RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Syndrome de Mathieu De Broca Bony". www.orpha.net (in Spanish). Retrieved 2022-05-19.
6. Mathieu, M.; De Broca, A.; Bony, H.; Piussan, C. (1993). "A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation". Genetic Counseling (Geneva, Switzerland). 4 (4): 299–303. ISSN 1015-8146. PMID 8110419.