John Marius Opitz

John Marius Opitz (1936 – ) German-American medical geneticist.

Opitz has published more than 500 papers and has written/edited 15 books. He is the founder and editor-in-chief emeritus of the American Journal of Medical Genetics. His research interests include sex determination, development of the genital system and its associate malformations, embryology and genetics of growth and skeletal abnormalities, and multiple congenital syndromes associated with mental retardation.

Opitz has described a large number of human developmental abnormalities, several of which are named for him.

He describes himself, “in the field I’m probably best known as a syndromologist. I have in fact studied quite a few syndromes, from natural history to pathogenesis to causes, with others, certainly not by myself alone. I have named syndromes after others (Zellweger, Noonan). Others have named syndromes after me.”

  • Born August 15, 1935 in Hamburg, Germany
  • 1950 – Immigrated to the United States, Iowa city
  • 1956 – BA in Zoology, University of Iowa
  • 1959 – MD, University of Iowa. During University he completed a joint review on the biology of sex determination and sex differentiation in animals (Witschi, Opitz, 1961)
  • 1959-1961 – Chief resident in Paediatrics in Madison working with Jacqueline Noonan
  • 1962-1964 – Fellowship in Medical Genetics with Klaus Patau (1908-1975) at the University of Wisconsin
  • 1964-1979 – Assistant Professor of the Faculty of the University of Wisconsin in Medical Genetics and Paediatrics. He was able to establish fetal/ pediatric pathology there and developmental pathology program in association with Dr. Enid Gilbert-Barness. He is also founder of the Wisconsin Clinical Genetics Center in 1974; Founder of the American College and American Board of Medical Genetics; Founder and Editor-in-Chief of the American Journal of Medical Genetics (AJMG) (1976)
  • 1979 – At the invitation of Philip D. Pallister, Opitz left the University of Wisconsin to become the Director of the Shodair -Montana Regional Genetic Service Program in Helena, Montana. This program included such services as cytogenetics and fetal genetic pathology. Opitz continued researching genetic syndromes, often collaborating with Phil D. Pallister, leading to the discovery of several syndromes including the Pallister-Hall, KBG, and Pallister-Killian syndromes. This collaboration also led to the discovery of the first human X-autosome translocation. Later he served as chair of the Department of Medical Genetics at Shodair Children’s Hospital and as an adjunct professor in Biology, History and Philosophy, Medicine, and Veterinary Science at Montana State University.
  • 1994 – He was appointed Professor of Medical Humanities at Shodair Children’s Hospital. Prior to leaving Montana, Opitz travelled to Germany to become the first visiting professor of the Hanseatic University Foundation of the University of Lübeck, Department of Genetics.
  • 1997 – Professor of Paediatrics, in the Division of Medical Genetics, along with adjunct positions with the Departments of Pathology, Human Genetics, and Obstetrics and Gynecology at the University of Utah School of Medicine Professor of Paediatrics at the University of Utah School of Medicine. He was an active participant in the fetal genetic pathology program in the Division of Pediatric Pathology at Primary Children’s Medical Center until 2015.
  • 2000 – Retired from Editor in Chief of the AJMG
  • 2002 – Sabbatical year in Italy in 2002, he then became the genetic coordinator in the stillbirth program, trying to autopsy all of the dead fetuses born at the [University of Utah HealthCare] University Hospital and other hospitals in town and in the state. Thus, on a daily basis he is involved with developmental pathology and developmental genetics.
Awards and honorary degrees

Awards include: American Society of Human Genetics Board of Directors (1979-1981); Certified Diplomate American Board of Medical Genetics (1982);Member, German Academy of Sciences Leopoldina (1985); Fellow American Academy of Pediatrics – Member, Brazilian Academy of Sciences (1967); Research Career Development Award (US PHS/NIH) (1969-1974); Corresponding member, DGK- German Society of Pediatrics (1979); Sidney Farber Lecturer, Society of Pediatric Pathology (1987); Pool of Bethesda Award for Research in Mental Retardation, Bethesda Lutheran Home, Wisconsin (1988); University of Wisconsin Alumni Citation (1989); the March of Dimes Colonel Harlan Sanders Lifetime Achievement Award for work in the field of genetic science (1991); Founding Fellow, American College of Medical Genetics (1993); Great Seal, University of Palermo (1994); Fellow of the American Association for the Advancement of Science (1995); the Humboldt Prize (1996); Premio Phoenix Anni Verdi for Genetic Research; Italian Medical Genetics Society (1996); Purkynĕ Medal, Czech Society of Medicine (1996); Mendel Medal, Czech Society of Medical Genetics (1996); Distinguished Alumni Award for Achievement, University of Iowa (2000); Distinguished Achievement Award for Scientific Literature, IASSIDD (2000); Establishment of the John M. Opitz Young Investigator Award, John Wiley and Sons-Publisher (2002); Medal of Honor of the DGfH (German Society of Human Genetics) (2005); William Allan Award In Human Genetics for Pioneering Work Identifying, Understanding Genetic Syndromes (2011); Bundesverdienstkreuz (BVK) [Federal Cross of Merit, Germany] for lifetime contributions to understanding genetic disorders (2016)

Honorary degrees: DSci, Montana State University (1982); MD, University of Kiel, Germany (1986); MD, University of Bologna, Italy (1999); MD, University of Copenhagen, Denmark (2004); DSci, Ohio State University (2007)

Medical Eponyms
Opitz-Kaveggia syndrome (1974) [FG syndrome type 3]

X-linked recessive mental retardation syndrome syndrome characterized by the R961W mutation of MED12. A helpful diagnostic finding is the relatively small ears. It is also characterized by dysmorphic features, including relative macrocephaly, hypertelorism, by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Most have hypotonia, constipation, and partial agenesis of the corpus callosum. Some patients have sensorineural hearing loss and joint laxity evolving into joint contractures. Affected individuals tend to be hyperactive and talkative [Graham et al 1998][OMIM 305450]

FGS may present before birth with asymmetric growth retardation, decreased fetal movements, ultrasound detection of congenital anomalies, and oligohydramnios or, more commonly, polyhydramnios. Fetal death and increased spontaneous prenatal loss has been recorded, and there is frequent perinatal fetal distress, requiring emergency cesarean section, and abnormal presentation, either breech or transverse lie.

In 1974, Opitz and Elisabeth G. Kaveggia (1926-2014) named the condition FG syndrome derived from the initials of the surnames of two sisters who had had a total of five affected sons. They published again in 1982 having followed up eight affected males in the FG family.

Children with pronounced oral tactile aversion may develop ‘‘bolting’’ with prolonged chewing of food and delayed swallowing; a sudden attempt at swallowing risks choking and aspiration – leading to aspiration pneumonias. Hence, all caretakers in the child’s home must know the Heimlich maneuver.

Criteria for diagnosis

Major criteria (present in 50% or more of FGS children):

  • Congenital hypotonia, developmental delay with speech delay worse than motordelay; Head circumference disproportionately large for length or height, with or withoutlarge anterior fontanelle; Defects in sensory integration; oral tactile aversion.
  • Reflux/feeding difficulties, which may lead to Nissen fundoplication with or without G-button; High, broad forehead with one or more cowlicks and abnormal hair whorls; Reactive airway disease; Multiple attacks of upper respiratory infections/otitis media leading to need for pressure-equalization tubes, tonsillectomy, and adenoidectomy;
  • Short sternum, telecanthus, short thick nasal septum; Broad thumbs/halluces, with second toenails tending to curve over the tip of the toe; Constipation/obstipation with or without diarrhoea;
  • Characteristic behaviour pattern with or without staring spells; A family history of FGS manifestations;Hypospadias, cryptorchidism, hernias; MRI abnormalities of brain and/or tethered cord

Minor criteria:

  • The presence of one or more congenital heart defect, mostly patent foramen ovale, patent ductus arteriosus, atrial septal defect (atrial septal defect secundum), ventricular septal defect; almost all of these are self-limited; persistent left superior vena cava; some children have valvular or pheripheral pulmonic stenosis; severe congenital heart defects rare;
  • A characteristic combination of minor anomalies, including downward slant of palpebral fissures; hypertelorism or telecanthus, epicanthic folds; hypotonic, mouth-breathing facial appearance; highly arched palate; lower lip more prominent than upper lip; abnormal teeth with late eruption; abnormal sequence of eruption; small teeth; gaps between teeth; large upper central incisors with diastema; abnormal enamel frequently requiring capping of many baby teeth; short perineal body; sacral dimple

Supporting criteria:

  • Coloboma (ocular)Cleft palate; Choanal atresia; Diaphragmatic defect; Pyloric stenosis; Laryngeal cleft (first degree); Imperforate anus, anal stenosis (rare)

Kim Peek and FG Syndrome

In his 2008 publication, Opitz described patient 15 (family 12), the megasavant Kim Peek (1951-2009) the foundation for Dustin Hoffman’s character in the 1988 film “Rain Man

Kim’s tested IQ was 87, however he possessed prodigious gifts in a dozen intellectual areas, and was an honorary alumnus of Oxford University. With perfect photographic memory, Kim could recite whole paragraphs from a book at the mere mention of a page number. By age 6, he had memorized the entire index of a set of encyclopedias. He was able to read both pages of a paperback book simultaneously, the right page with his right eye, the left page with his left eye.

Kim had a large head and brain with persistent torticollis to the right, hypertelorism, hypotonia, downward slant of palpebral fissures, a high broad forehead, right anterior cowlick, a (congenitally) hypotonic mouth-breathing face, striking hypotonia/lymphedema sequence, broad halluces and thumbs, and a prominent lower lip with mild micrognathia and malocclusion. His 1988 MRI scan showed a complete absence of the corpus callosum; normal gyral pattern and cerebral cortex; a dilated third ventricle; enlarged posterior bodies and horns of the lateral ventricles; normal brainstem; and an enlarged fourth ventricle.

Opitz concluded that Kim Peek had FGS rather than autism

Further Episodes:

The N syndrome [Opitz N syndrome; NSX]: Autosomal recessive or sex-linked inheritable malformation-retardation syndrome with impaired hearing an visual disturbances, cryptorchism, hypospadia and tetraspastic. The term N syndrome is taken from the first letter in the name of the affected family. [OMIM 310465]

Noonan syndrome: In 1965, Opitz was a first year pediatric resident in the Department of Pediatrics, Iowa City where Jacqueline Noonan was a faculty member from 1959-1961. He moved to Madison, Wisconsin to complete his pediatric training, and noted a number of children, similar to the ones he had seen with Dr. Noonan. These individuals had small stature, hypertelorism, mild mental retardation; ptosis; skeletal abnormalities, and undescended testes in the males. Pulmonary stenosis was the most frequent cardiac defect. The chromosomes in these patients were normal and Opitz considered that they could clearly be distinguished from Ullrich-Turner syndrome. He published an abstract “Noonan Syndrome in Girls: A Genocopy of the Ullrich-Turner syndrome” 

Herrmann-Opitz syndrome (1969): Syndrome of mental retardation and acrocephalosyndactyly, peculiar facies, pronounced hypertelorismus, small chin, deep dysmorphic ears, cryptorchism, limitation of movement of the elbows, brachysyndactyly of fingers and toes with lack of fourth finger, and various associated abnormalities.

The VSR syndrome (1974): Autosomal dominant inheritable syndrome with the main findings in skeleton and joints, observed in one family through three generations, with one affected person in each generation

The KBG syndrome: [aka Herrmann-Pallister syndrome, OMIM 148050] Malformation- and dysmorphy syndrome with the triad of dwarfism, mental retardation and skeletal anomalies.

The BBB syndrome:

Opitz GBBB syndrome: [OMIM 300000]

Bohring-Opitz syndrome: Malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints [C-like syndrome; Opitz trigonocephaly-like syndrome; Bohring syndrome; BOPS; OMIM 605039]

Major Publications



FG syndrome

Graduated from Southampton Medical School in 2017 with BMBS. Working in Sir Charles Gairdner Hospital Emergency Department in Perth, Australia.

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 |

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