Otto Ullrich

Otto Ullrich (1894 – 1957) was a German pediatrician.

One of the founders of clinical genetics in Germany making contributions to syndromic delineation and dysmorphology

Eponymously remembered for his description of Ullrich-Turner syndrome (1930)

  • Born 7 January 1894
  • 1939-1943 Professor of paediatrics, Universität Rostock
  • 1943-1957 Professor of Pediatrics, University of Bonn
  • 1952 – Elected to the Deutsche Akademie der Naturforscher Leopoldina
  • Died 22 October 1957 in Bonn, Germany

Medical Eponyms
Ullrich-Turner syndrome (1930, 1938)

1930 – Otto Ullrich presented, in the former Zeitschrift fur Kinderheilkunde (present European Journal of Pediatrics) the case of an 8-year-old girl with the complete clinical picture of this disorder including congenital lymphedematous redundancy of the skin of the nape of the neck together with congenital lymphedema of hands and feet with nail ‘dysplasia,’ sphinx-like expressionless face with cranial nerve palsies including bilateral ptosis and facial nerve weakness with so-called fish like mouth and high and narrowly arched palate, low-set ears and low posterior hairline, later development of pterygium colli; hypoplastic nipples and cubiti valgi; and shortness of stature and normal intellectual development.

Ullrich congenital muscular dystrophy (1930)

Ullrich congenital muscular dystrophy is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. [Ullrich’s congenital, atonic-sclerotic muscle dystrophy; UCMD]

Bonnevie-Ullrich syndrome (1932, 1934. 1936)

Congenital syndrome consisting of short stature, syndactyly, webbed of the neck (pterygium colli), peripheral lymphoedema of the hands and feet, hypoplasia of bones and muscles, laxity of the skin, dystrophic nails, and motor disturbances of the cranial nerves. Aetiology unknown. Inheritance either X-linked or autosomal dominant.

In what proved to be a trail-blazing discovery in the field of mammalian phenogenetics, Kristine Bonnevie (1932, 1934) was enabled by a discerning combination of genetic experiments and embryological analysis to reach a flawless clarification of the formative events underlying various multiple anomalies in an abnormal strain of the house mouse. The mutation analyzed by her was one recovered by Bagg and Little (1924) from a race of inbred, x-rayed mice. It proved to be a monogenic recessive abnormality manifesting itself in the form of very diverse malformations of the head and extremities.

This astonishing revelation of the formative processes responsible for multiple anomalies in Bagg-Little (my) mice was utilized by me in 1936 for the elucidation of very similar complexes of deformities in man.

Ullrich 1949

Later the term “Bonnevie-Ullrich” was applied to any form of nuchal webbing which followed localised lymphoedema. This designation included females with gonadal dysgenesis (X0) and males with stunted stature, neck webbing and structural cardiac defects (Noonan syndrome).

1965 – Ferguson-Smith defined gonadal dysgenesis in terms of karyotype-phenotype correlations. The eponym “Bonnevie-Ullrich” was applied to the “male Turner” syndrome.

1968 – Noonan further defined the “male Turner” syndrome and her name then replaced the eponym of Bonnevie-Ullrich.

Currently, the term Turner syndrome is applied to females with gonadal dysgenesis and an XO chromosomal constitution; Noonan syndrome for males with stunted stature, variable neck webbing, structural cardiac defects and normal chromosomes; and the Bonnevie-Ullrich eponym has largely fallen into disuse.

Major Publications


BA MA (Oxon) MBChB (Edin) FACEM FFSEM. Emergency physician, Sir Charles Gairdner Hospital.  Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |

Leave a Reply

This site uses Akismet to reduce spam. Learn how your comment data is processed.