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Thanatophoric dysplasia type 2

Disease definition

A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.

ORPHA:93274

Classification level: Subtype of disorder
  • Synonym(s):
    • Cloverleaf skull-micromelic bone dysplasia syndrome
    • TD2
    • Thanatophoric dwarfism type 2
    • Thanatophoric dwarfism-cloverleaf skull syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.1
  • ICD-11: LD24.02
  • OMIM: 156830  187601
  • UMLS: C1300257
  • MeSH: C536508
  • GARD: 1402
  • 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

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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.