Cleft palate short stature vertebral anomalies syndrome
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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]
| 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 |
Presentation
editPeople 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
editThis 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
edit- ^ 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.
- ^ "Cleft palate short stature vertebral anomalies - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-19.
- ^ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Syndrome de Mathieu De Broca Bony". www.orpha.net (in Spanish). Retrieved 2022-05-19.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ 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.