Cerebro-costo-mandibular syndrome

Alternate names

Cerebrocostomandibular syndrome ; CCMS; CCM syndrome; Rib gap defects with micrognathia

Definition

Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects.

Cause

No specific gene known to cause the condition has been identified.

Inheritance

The majority of cases of cerebro-costo-mandibular syndrome (CCMS) appear to occur sporadically (randomly), in people with no history of the condition in their family. However, familial cases have been reported (almost half of all cases), with both autosomal recessive and autosomal dominant inheritance described.

Signs and symptoms

It is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects. Other signs and symptoms may include intellectual disability and microcephaly (small head size). In some cases, the features cause respiratory problems in early infancy and can be life-threatening.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Bell-shaped thorax
• Cleft palate(Cleft roof of mouth)
• Micrognathia(Little lower jaw)
• Neonatal respiratory distress(Infantile respiratory distress)
• Posterior rib gap

30%-79% of people have these symptoms

• Atresia of the external auditory canal(Absent ear canal)
• Conductive hearing impairment(Conductive deafness)
• Death in infancy(Infantile death)
• Feeding difficulties(Feeding problems)
• Glossoptosis(Retraction of the tongue)
• Intellectual disability(Mental deficiency)
• Intrauterine growth retardation(Prenatal growth deficiency)
• Kyphosis(Hunched back)
• Short stature(Decreased body height)
• Tracheomalacia(Floppy windpipe)

5%-29% of people have these symptoms

• Anal stenosis(Narrowing of anal opening)
• Anteriorly placed anus
• Cerebral calcification(Abnormal deposits of calcium in the brain)
• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Hydranencephaly
• Microcephaly(Abnormally small skull)
• Multicystic kidney dysplasia
• Myelomeningocele
• Porencephalic cyst(Cavity within brain)
• Short hard palate
• Ventricular septal defect(Hole in heart wall separating two lower heart chambers)
• Webbed neck(Neck webbing)

Diagnosis

Diagnosis is based on clinical features, along with typical x-ray findings, confirms the diagnosis.

Treatment

Treatment and prognosis depend on the features and severity in each affected person.

NIH genetic and rare disease info

• NIH info on Cerebro-costo-mandibular syndrome

Cerebro-costo-mandibular syndrome is a rare disease.

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