Acrocallosal Syndrome (Schinzel Type)

Definition

Definition of Acrocallosal Syndrome (Schinzel Type)
Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital).

Additional physical abnormalities may also be present, including growth retardation, resulting in short stature. Although autosomal recessive inheritance has been suggested, acrocallosal syndrome often appears to occur randomly for unknown reasons (sporadically).

Symptoms

Symptoms of Acrocallosal Syndrome (Schinzel Type)
Associated symptoms and findings may be variable, including among affected members of the same family (kindred). However, the disorder is typically characterized by underdevelopment (hypoplasia) or absence (agenesis) of the thick band of nerve fibers joining the two hemispheres of the brain (corpus callosum) and moderate to severe mental retardation. In addition, many affected individuals have malformations of the skull and facial (craniofacial) region and/or distinctive abnormalities of the fingers and toes (digits). Characteristic craniofacial abnormalities may include an unusually large head (macrocephaly) with a prominent forehead; widely spaced eyes (ocular hypertelorism); downslanting eyelid folds (palpebral fissures); a small nose with a broad nasal bridge; and malformed (dysplastic) ears. Most affected individuals also have distinctive digital malformations, such as the presence of extra (supernumerary) fingers and toes (polydactyly) and webbing or fusion (syndactyly) of certain digits.

Causes

Causes of Acrocallosal Syndrome (Schinzel Type)
Rare genetic disorder that is apparent at birth inherited as an autosomal recessive disorder. It is usually seen in consanguineous parents.

Diagnosis

Diagnosis of Acrocallosal Syndrome (Schinzel Type)
Total or partial absence of the corpus callosum. Minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils and large anterior fontanels); Moderate to severe psychomotor retardation (with hypotonic); Polydactyl.

Treatment

Treatment of Acrocallosal Syndrome (Schinzel Type)
The treatment of acrocallosal syndrome, Schinzel type is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; physicians who diagnose and treat neurological disorders (neurologists); physicians who specialize in heart disease (cardiologists); physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); eye specialists; and/or other health care professionals.

Prevention

Prevention of Acrocallosal Syndrome (Schinzel Type)
Antenatal diagnosis is possible for better prevention of this genetic disorder. Acrocallosal syndrome should be suspected in any child with polysyndactyly, absence of corpus Callosum, mental retardation and hypotonia.