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Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

Disease definition

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations (see this term), characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot; see these terms) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.

ORPHA:217026

Classification level: Disorder
  • Synonym(s):
    • Hadziselimovic syndrome
    • Microcephaly-faciocardioskeletal syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 612946
  • UMLS: C2751878
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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