Cleft palate short stature vertebral anomalies syndrome explained

Cleft palate-short stature-vertebral anomalies syndrome
Synonyms:	Mathieu-De Broca-Bony syndrome
Symptoms:	Vertebral anomalies, intellectual disabilities, short stature, cleft palate
Onset:	Birth
Duration:	Life-long
Causes:	Autosomal dominant inheritance
Prevention:	none
Management:	-->
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]

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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]

Notes and References

1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Search a disease . 2022-05-19 . www.orpha.net . en.
2. Web site: Cleft palate short stature vertebral anomalies - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-19 . rarediseases.info.nih.gov . en.
3. Web site: Cleft palate with short stature and vertebral anomaly syndrome (Concept Id: C4304704) - MedGen - NCBI . 2022-05-19 . www.ncbi.nlm.nih.gov . en.
4. Web site: Cleft palate short stature vertebral anomalies - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-19 . rarediseases.info.nih.gov . en.
5. Web site: RESERVADOS . INSERM US14-- TODOS LOS DERECHOS . Orphanet: Syndrome de Mathieu De Broca Bony . 2022-05-19 . www.orpha.net . es.
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 . 1015-8146 . 8110419.