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Thanatophoric dysplasia type 1

Disease definition

A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.

ORPHA:1860

Classification level: Subtype of disorder
  • Synonym(s):
    • TD1
    • Thanatophoric dwarfism type 1
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.1
  • ICD-11: LD24.02
  • OMIM: 187600
  • UMLS: C1868678
  • MeSH: C566844
  • GARD: 9295
  • MedDRA: -

  A summary on this disease is available in Deutsch (2013) Italiano (2013) Español (2021) Français (2021) Nederlands (2021) Português (2021) Polski (2013, pdf) Polski (2013)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

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.