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)
- Born Erzsébet Gathy Kaveggia on February 10, 1926 in Budapest, Hungary
- 1956 – Emigrated to the Chicago, USA from 2Hungary
- 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 retiring as head of pediatric and genetic services in 1995
- Died May 18, 2014 in Madison, USA
Opitz-Kaveggia syndrome (1974) [FG syndrome]
X-linked recessive mental retardation syndrome 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]
In 1974, John M. Opitz and Kaveggia 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.
Kim Peek and FG Syndrome
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
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]
- Opitz JM, Kaveggia EG. The FG syndrome: an X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Zeitschrift für Kinderheilkunde, 1974; 117: 1-18. [Opitz-Kaveggia syndrome]
- Hess RO, Kaveggia EG, Opitz JM. Studies of malformation syndromes in man. XXVII. The N syndrome, a “new” multiple congenital anomaly-mental retardation syndrome. Clin Genet. 1974;6(4):237-246.
- Neuhäuser G, Kaveggia EG, Opitz JM. Studies of malformation syndromes of man XXXVIII: The BD syndrome. A “new” multiple congenital anomalies/mental retardation syndrome with athetoid cerebral palsy. Zeitschrift für Kinderheilkunde. 1975;120(3):191-198. [Kaveggia syndrome]
- Neuhäuser G, Kaveggia EG, Opitz JM. Studies of malformation syndromes of man XXXIX: A craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: “craniofacial dyssynostosis”. Eur J Pediatr. 1976;123(1):15-28.
- Opitz JM, Kaveggia EG, Adkins WN Jr, et al. Studies of malformation syndromes of humans XXXIIIC: The FG syndrome – further studies on three affected individuals from the FG family. Am J Med Genet. 1982;12(2):147-154. [Opitz-Kaveggia syndrome]
- Opitz JM, Adkins WN Jr. Remembered: Elisabeth G. Kaveggia. Am J Med Genet A. 2015;167A(4):681-682.
- Peek F. The Real Rain Man. Salt lake City, UT: Harkness; 1996.
- Treffert DA, Christensen DD. Inside the mind of a savant. Sci Am. 2005;293(6):108-113.
- Opitz JM, Smith JF, Santoro L. The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008. Adv Pediatr. 2008;55:123-170.
- Graham JM Jr, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM. Clinical and behavioral characteristics in FG syndrome. Am J Med Genet. 1999;85(5):470-475.
- OPITZ-KAVEGGIA SYNDROME; OKS – 305450. OMIM
the person behind the name