A very rare, autosomal recessive, complex,
polymalformative disease characterized by predominant neurological and skeletal
Hallux Duplication, Postaxial Polydactyly, and Absence of
Corpus Callosum; Acrocallosal Syndrome.
Described in 1979 by Albert AGL Schinzel, an Austrian human geneticist, in Vienna.
A rare condition reported in Austria, Switzerland and Turkey.
Autosomal recessive (consanguinity frequent).
Unknown; gene located at 12p13.3-p11.2.
Association of mental retardation, peculiar facies,
absence of the corpus callosum, and polydactyly.
Global syndrome constitutes a complex
polymalformative disease characterized by macrocephaly, large anterior fontanel,
epicanthal folds, prominent occiput, and bulging forehead. Agenesis of
corpus callosum, seizures, hyperreflexia, anencephaly occurs in some cases.
Facial deformations can include low-set posteriorly rotated ears,
down-slanting palpebral fissures, exotropia, protruding eyeballs,
hypertelorism, broad and short nose, anteverted nostrils, short upper lip,
and high-arched cleft palate. Skeletal deformations are also observed:
postaxial polydactyly of the fingers and toes, bifid terminal phalanges of
the thumbs, duplicated halluces, and tapered fingers. Umbilical and inguinal
hernia, light curly hair, hypospadias, hypogonadism, and cardiac defects can
The airway must be carefully evaluated
(clinical, radiography) because of craniofacial anomalies. Cardiac function
(clinical, chest radiograph, echocardiography); neurological function
(clinical, EEG, CT, MRI) must be obtained. One must ensure that the seizure
therapy is optimal (history, clinical, biology).
Direct laryngoscopy and tracheal
intubation may be difficult and may require fiberoptic intubation because of
malformations. The availability of a laryngeal mask airway is recommended.
Prophylactic antibiotics must be considered in presence of
cardiac defect. Avoid cardiodepressive drugs. Antiepileptic treatment should
be continued on day of surgery; consider interaction between antiepileptic
and anesthetic drugs.
Koenig R, Bach A, Woelki U, et al: Spectrum of the acrocallosal syndrome.
Am J Med Genet
Schinzel A: Postaxial polydactyly, hallux duplication, absence of the corpus
callosum, macrencephaly and severe mental retardation: A new syndrome. Helv Paediatr Acta