Metatropic dysplasia

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Classification according to ICD-10
Q77.8 Other osteochondrodysplasias with growth disorders of the long bones and the spine
ICD-10 online (WHO version 2019)

The metatropic dysplasia , (from the Greek  μετά 'metá' "after, behind" and the Greek  τροπή 'tropé' "turn, change") is a very rare congenital skeletal dysplasia with the main characteristic of short stature with changing body proportions in the course of growth .

Synonyms are: metatropic dysplasia; Metatropic short stature

The clinical picture was delimited and named in 1966 by the pediatricians Pierre Maroteaux , Jürgen Spranger and Hans-Rudolf Wiedemann .


The frequency is given as less than 1 in 1,000,000, so far about 80 people have been reported.

root cause

The disease are mutations in the TRPV4 - gene on chromosome 12 locus q24.11 basis.

Clinical manifestations

Clinical criteria are:

  • Onset of illness in the first year of life
  • Short stature with short extremities , narrow thorax , and long trunk as a toddler
  • increasing in the course of childhood kyphoscoliosis with hull shortening and relatively long limbs
  • Adult height between 110 and 130 cm
  • Distended, hyperextensible joints
  • Facial abnormalities as a newborn with later normalization


The following characteristic changes can be found in the X-ray image :

The diagnosis can already be suspected in the womb by fine ultrasound .

Prospect of healing

The life expectancy is considered normal (depending on possible pulmonary hypoplasia due to the narrow thorax).


  • SD Boden, FS Kaplan, MD Fallon, R. Ruddy, J. Belik, E. Anday, E. Zackai, J. Ellis: Metatropic dwarfism. Uncoupling of endochondral and perichondral growth. In: The Journal of bone and joint surgery. American volume. Vol. 69, No. 2, February 1987, pp. 174-184, PMID 3805078 .
  • J. Belik, EK Anday, F. Kaplan, E. Zackai: Respiratory complications of metatropic dwarfism. In: Clinical pediatrics. Vol. 24, No. 9, September 1985, pp. 504-511, doi: 10.1177 / 000992288502400907 , PMID 4017401 .
  • W. Winkelmann, G. Rompe, KP Schulitz, C. Steffens, S. Huebner: The metatropical dwarf growth. In: Journal of Orthopadics and their Frontier Areas. Vol. 116, No. 5, 1978, pp. 691-696, PMID 568854 .

Individual evidence

  1. a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. a b c d Metatropic dysplasia. In: Orphanet (Rare Disease Database).
  3. P. Maroteaux, J. Spranger, HR Wiedemann: The metatropic dwarf growth. In: Archives for Pediatrics. Vol. 173, No. 3, February 1966, pp. 211-226, PMID 4963592 .
  4. ^ Metatropic dysplasia.  In: Online Mendelian Inheritance in Man . (English)
  5. S. Manouvrier-Hanu, L. Devisme, MC Zelasko, P. Bourgeot, C. Vincent-Delorme, AS Valat-Rigot, F. Puech, JP Farriaux: Prenatal diagnosis of metatropic dwarfism. In: Prenatal diagnosis. Vol. 15, No. 8, August 1995, pp. 753-756, PMID 7479594 .

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