Cerebro-facio-articular syndrome

From WikiMD's Wellness Encyclopedia

Alternate names[edit | edit source]

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

Definition[edit | edit source]

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

Cause[edit | edit source]

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

Inheritance[edit | edit source]

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Signs and symptoms[edit | edit source]

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

30%-79% of people have these symptoms

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)

Diagnosis[edit | edit source]

Treatment[edit | edit source]

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

NIH genetic and rare disease info[edit source]

Cerebro-facio-articular syndrome is a rare disease.

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Contributors: Deepika vegiraju