Orphanet: Qazi Markouizos syndrome
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Qazi-Markouizos syndrome

Disease definition

A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be assoicated. There have been no further descriptions in the literature since 1994.

ORPHA:3010

Classification level: Disorder
  • Synonym(s):
    • Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 600096
  • UMLS: C2931142
  • MeSH: C536259
  • GARD: 371
  • MedDRA: -
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