Elisabeth G. Kaveggia

Elisabeth Gathy Kaveggia (1926 - 2014)

Elisabeth Gathy Kaveggia (1926 – 2014) was a Hungarian born, American pediatrician and geneticist.

Eponymously remembered for her description of Opitz-Kaveggia syndrome (1974) [FG syndrome]; and Kaveggia syndrome (1975)

My memory of Elisabeth is that of a gifted old-world lady, eyes flashing with high intelligence and sparkling good humor, even tempered, devoted to her patients, always delighted to point out to me something I had not seen before.

John M Opitz, 2014

  • Born Erzsébet Gathy Kaveggia on February 10, 1926 in Budapest, Hungary
  • 1956 – Emigrated to the Chicago, USA from Hungary with her husband and son after her medical education
  • 1960 – Relocated to Madison, Wisconsin. Commenced work at the Central Wisconsin Colony and Training School for the Mentally Retarded (later named the Central Wisconsin Center)
  • 1960-1995 – Worked at Central Wisconsin Centre for 35 years retiring as Head of Paediatric and Genetic Services in 1995. She was a conscientious physician as well as a loving and devoted mother to her four children. 
  • Died May 18, 2014 in Agrace Hospice Care in Madison, USA after a brief illness

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

X-linked recessive mental retardation syndrome characterized by the R961W mutation ofMED12. A helpful diagnostic finding is the relatively small ears. It is also characterized 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, Kaveggia and John M. Opitz 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:

Kaveggia syndrome (1975)

A previously apparently undescribed “syndrome” is reported in which megalocornea and iris anomalies are accompanied by minor facial and skeletal anomalies, severe mental retardation, hypotonia, and seizures. The condition was found in 3 siblings of one family and in 4 sporadic cases; it is thought to be recessively inherited. [aka* Kaveggia-Neuhauser syndrome]

Major Publications



FG syndrome

Dr Kathryn Scott LITFL Author

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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