Category Archives: Rare Disease

Metaphyseal Chondrodysplasia type Schmid part 1: the early years

Having recently returned from the Horizon 2020 funded ‘MCDS-Therapy’ project kick-of meeting in Brussels, I though that it would be timely to write a short blog on the specific bone dysplasia for which are about to repurpose carbamazepine.

We had written in the Horizon 2020 grant application that “MCDS was initially described as ‘dysostosis enchondralis metaphysarea’ by Schmid in 1949 and subsequently by Maroteaux and Lamy in 1958 and is a very rare form of short-limbed dwarfism that is characterised by disproportionate short stature and long bone deformities.” 

But I wondered how our description and nomenclature had evolved since the first documented report by Dr F Schmid in 1949.

Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.

It was therefore time to look at some of the skeletal atlases and text books on my office shelf……

– 1951 –

In Sir Thomas Fairbanks’ prototypical ‘Atlas of General Affections of the Skeleton’ he makes reference to two related conditions:-

  • Metaphyseal Dysostosis and refers to Jansen’ 1934 case description
  • Familial Metaphyseal Dysplasia and refers to case descriptions from Pyle (1931), Ingalls (1933), Ellis (1934) and Bakwin (1937).

– 1976 –

Chapter 9 of the revised ‘Fairbank’s Atlas of General Affections of the Skeleton’ by Ruth Wynne-Davies and TJ Fairbanks (Sir Thomas’ son) is dedicated to ‘The Metaphyseal Chondrodysplasias’ and provides historical context and clinical/radiographic detail on 13 related conditions:-

  • Metaphyseal chondrodysplasia – Type Jansen
  • Metaphyseal chondrodysplasia – Type Schmid
  • Metaphyseal chondrodysplasia – Type McKusick (Cartilage Hair Hypoplasia)
  • Metaphyseal chondrodysplasia with congenital pancreatic insufficiency and neutropenia
  • Metaphyseal chondrodysplasia with thymolymphopenia
  • Other types of Metaphyseal chondrodysplasia – 8 listed in total

    – 1988 –

Peter Beighton’s ‘Inherited disorders of the skeleton’  refers to the same types of Metaphyseal Chondrodysplasia as Wynne-Davies and Fairbanks (1976), but also describes the differential diagnosis of metabolic rickets and relates the story of ‘bowed Joseph’, who led the Edinburgh meal riots and died in 1780 after a fall from the top of a stage-coach when returning from Leith races in an drunken state.

‘Bowed Joseph’

see here for more details

To follow shortly…..

Metaphyseal Chondrodysplasia type Schmid, part 2: the role of molecular genetics in gene identification


Skeletal genetics on tour 2018

2018 looks to be filling up with conferences that members of the ‘rare disease section’ of the skeletal research group at IGM will be presenting at

In February it is rare disease day and in addition to IGM’s annual flagship Genetics Matters event, Mike will be talking at Findacure’s 2018 Drug Repurposing for Rare Diseases Conference.

In April Kasia will be talking at the Bone Research Society and the OARSI young investigators pre-congress workshop entitled “Lessons from Rare Diseases in Bone & Cartilage”.

In May Mike will be talking at pre-congress sessions at The European Calcified Tissue Society (ECTS) Annual Meeting. He will present at a working shop on cartilage pathophysiology and EU consortia.

In June Mike will be speaking within the Rare Bone Disease Workshop, taking place during the Bone Research Society Annual Meeting being held at the University of Winchester, 27-29 June 2018.

In July Mike will be talking at Matrix Biology Europe 2018.