Cerebro-facio-articular syndrome

Alternate names

Van Maldergem syndrome; Cerebro-facio-articular syndrome of Van Maldergem; Cerebrofacioarticular syndrome; Van Maldergem Wetzburger Verloes syndrome

Definition

Cerebro-facio-articular syndrome, which is also known as van Maldergem syndrome, is a rare condition that was first described in 1992.

Cause

Cerebro-facio-articular syndrome can be caused by changes (mutations) in the DCHS1 or FAT4 genes.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Signs and symptoms

Key features of the condition include characteristic facial features, hand abnormalities, moderate to severe intellectual disability, poor muscle tone and joint hyperlaxity.

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

• Abnormal facial shape(Unusual facial appearance)
• Camptodactyly(Permanent flexion of the finger or toe)
• Global developmental delay
• Infantile muscular hypotonia(Decreased muscle tone in infant)
• Microtia(Small ears)

30%-79% of people have these symptoms

• Conductive hearing impairment(Conductive deafness)
• Gastrostomy tube feeding in infancy
• Intellectual disability, moderate(IQ between 34 and 49)
• Large fontanelles(Wide fontanelles)
• Micrognathia(Little lower jaw)
• Osteopenia
• Renal hypoplasia(Small kidneys)
• Syndactyly(Webbed fingers or toes)

5%-29% of people have these symptoms

• Abnormal heart morphology(Abnormality of the heart)
• Absence of pubertal development
• Agenesis of corpus callosum
• Anal stenosis(Narrowing of anal opening)
• Anteriorly placed anus
• Ataxia
• Bilateral choanal atresia/stenosis
• Blepharophimosis(Narrow opening between the eyelids)
• Caudal appendage(Human tail)
• Cerebellar vermis hypoplasia
• Dysplastic corpus callosum
• Epicanthus(Eye folds)
• Gray matter heterotopia
• Hypertelorism(Wide-set eyes)
• Hypoplasia of the corpus callosum(Underdevelopment of part of brain called corpus callosum)
• Hypoplasia of the maxilla(Decreased size of maxilla)
• Hypospadias
• Intellectual disability, severe(Early and severe mental retardation)
• Irregular dentition(Irregular teeth)
• Lymphedema(Swelling caused by excess lymph fluid under skin)
• Microcephaly(Abnormally small skull)
• Narrow mouth(Small mouth)
• Pulmonic stenosis(Narrowing of pulmonic valve)
• Self-injurious behavior(Self-injurious behaviour)
• Short stature(Decreased body height)
• Talipes equinovarus(Club feet)
• Tracheomalacia(Floppy windpipe)
• Ventriculomegaly
• Wide nasal bridge(Broad nasal bridge)

Treatment

Treatment is based on the signs and symptoms present in each person.

NIH genetic and rare disease info

• NIH info on Cerebro-facio-articular syndrome

Cerebro-facio-articular syndrome is a rare disease.

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