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Dr. Andrew Rynne
Dr. Andrew Rynne

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Exp 50 years

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Article Home Children's Health Absence of Corpus Callosum Schinzel Type

Absence of Corpus Callosum Schinzel Type

Absence of Corpus Callosum Schinzel Type is synonymous with Hallux Duplication, Postaxial Polydactyly, Absence of Corpus Callosum and Schinzel Acrocallosal Syndrome. Acrocallosal syndrome, Schinzel type is a rare genetic disorder and is congenital and genetic in nature and the symptoms and findings of the disease vary even among affected members of the same family.

Disorder is characterized by hypoplasia, absence of corpus Callosum and mental retardation. Disorder is autosomal recessive as per geneticists but the disorder often occurs randomly with reasons being unknown.

Symptoms and Signs

  • Total Corpus Callosum agenesis
  • Partial Corpus Callosum agenesis
  • Mental Retardation
  • Hypotonia
  • Polydactyly
  • Prominent forehead
  • Hypertelorism
  • Broad nasal bridge
  • Short nose
  • Anteverted nostrils
  • Large anterior fontanel
  • Cleft palate
  • High arched palate
  • Low set ears
  • Posteriorly rotated ears
  • Macrocephaly
  • Epicanthal folds
  • Inguinal hernia
  • Seizures
  • Tapered fingers
  • Hypospadias in males
  • Congenital heart diseases
  • Cystic brain malformations
  • Syndactyly
  • Conductive hearing loss
  • Bilateral sensorineural hearing loss
  • Narrow external meatus
  • Ear skin tags
  • Simian crease
  • Gap between first and second toe
  • Hyperextensibility of fingers
  • Respiratory infections
  • Anal atresia
  • Increased birth weight
  • Hypothyroidism
  • Nystagmus
  • Bipartite clavicle
  • Failure to thrive
  • Cryptorchidism

Diagnosis and Investigations

There are various criterion for the diagnosis of the condition

  • Total or partial absence of corpus Callosum
  • Minor craniofacial abnormalities
  • Psychomotor retardation with hypotonia
  • Polydactyly
  • Chromosome Analysis
  • Prenatal Cytogenetic analysis of Amniotic Fluid
  • Chorionic Villus Sampling

Treatment and Medications

Treatment is generally symptomatic and will differ patient to patient depending on the complications occurred and the condition of the patient