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Microcephalic primordial dwarfism, Montreal type

Disease definition

A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.

ORPHA:2617

Classification level: Disorder
  • Synonym(s):
    • Bird-headed dwarfism, Montreal type
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.1
  • OMIM: 210700
  • UMLS: C1859468
  • MeSH: C535448
  • GARD: 895
  • MedDRA: -

  A summary on this disease is available in Deutsch (2018) Español (2018) Italiano (2018) Nederlands (2018) Polski ()

Additional information

Further information on this disease

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Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.