Английская Википедия:Cerebro-costo-mandibular syndrome
Материал из Онлайн справочника
Перейти к навигацииПерейти к поиску
Шаблон:Infobox medical condition
Cerebro-costo-mandibular syndrome is a very rare genetic disorder which is characterized by jaw/chin, palate and rib abnormalities.[1]
Signs and symptoms
The following list comprises the most common symptoms people with this disorder exhibit:[2]
- Severe micrognathia
- Thorax in the shape of a bell
- Cleft palate
- Neonatal respiratory difficulties
- Rib gaps
Common (but not the most) symptoms include:
- External auditory canal atresia
- Hearing loss
- Failure to thrive
- Glossoptosis
- Intellectual disabilities
- Fetal growth delays
- Kyphosis
- Short height
- Tracheomalacia
Not common but also not rare symptoms include:
- Fifth finger clinodactyly
- Cerebral calcification
- Hydranencephaly
- Meningocele
- Microcephaly
- Polycystic kidney dysplasia
- Myelomeningocele
- Porencephalic cyst
- Short, hard palate
- Spina bifida
- Ventricular septal defect
- Webbed neck
Causes
This disorder is caused by autosomal dominant mutations in the SNRPB gene, in chromosome 20.[3]
Epidemiology
Only 110 cases have been described in medical literature.[4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]
References
- ↑ Шаблон:Cite web
- ↑ Шаблон:Cite web
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite web
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite web
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal