3MC Syndrome

Alternative Names

  • 3MC1
  • Oculopalatoskeletal Syndrome
  • Craniosynostosis with Lid Anomalies
  • Michels Syndrome, Formerly
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

257920

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3q27.3

Description

Oculopalatoskeletal syndrome is an extremely rare developmental defect characterized by the eyelid triad of blepharophimosis, blepharoptosis and epicanthus inversus, skeletal defects in the form of spina bifida occulta, craniosynostosis, cranial asymmetry, abnormality of the occipital bone, radioulnar synostosis, cleft lip and palate, hearing loss and mild mental retardation. In addition, a developmental defect of the anterior segment of the eye leading to corneal stromal opacities, and limitation of upward gaze is present in affected individuals.

Molecular Genetics

Linkage analyses in multiplex families to determine whether oculopalatoskeletal syndrome is allelic to the blepharophimosis, ptosis, and epicanthus inversus syndrome which maps to 3q22-q23 has been suggested.

Epidemiology in the Arab World

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Other Reports

Sudan

Al-Gazali et al. (1994) reported two sibs, born to first cousin Sudanese parents, with multiple congenital abnormalities including prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease, and early lethality. The family had a history of four miscarriages at 2-3 months gestation. The first case was a female who had a prominent occiput, prominent eyes with hypertelorism, and bilateral corneal opacities. Chromosome analysis revealed a normal female karyotype. In the lower limbs both fibula appeared longer than normal and were bowed. Opthalmological examination at the age of one month revealed normal sized eyes with no evidence of blepharophimosis or blepharoptosis. The second case was a female born by lower Cesarean section. At birth she was noted to have a large anterior fontanelle, downslanting palpebral fissures, bilateral corneal clouding, and small ears. Skeletal survey showed slender long bones, which were slightly osteopenic. The baby was fed by nasogastric tube, but failed to gain weight. Her condition continued to deteriorate until she died at the age of 30 days. Family history revealed that the parents' cousin, who is married to his first cousin had two children who died with similar condition. Al Gazali et al. (1994) concluded that the constellation of anomalies described in their patients may represent a previously undescribed syndrome with some similarities to Michels syndrome, a severe form, from which it should be differentiated.

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