Kaveggia syndrome

The Kaveggia syndrome or Neuhäuser-Kaveggia syndrome is a very rare, not certain independent congenital disease with the main characteristics of the most severe mental handicap , spasticity and athetosis , short stature and facial dysmorphism .

Synonyms are: BD syndrome

The name refers to the authors of the first description from 1975 by the neuropediatrist Gerhard Neuhäuser, the American pediatrician Elisabeth G. Kaveggia and the pediatrician and human geneticist John Marius Opitz .

The syndrome is not to be confused with Neuhauser's syndrome (megalocorneal intellectual disability syndrome) or FG syndrome (Opitz-Kaveggia syndrome).

Spread and cause

The frequency and cause are unknown.

Clinical manifestations

Clinical criteria are:

Micro- , brachycephaly
Facial dysmorphia with hypertelorism , hypoplasia of the midface, prominent forehead , progeny
Medial diastema , nasal dorsal fistula, incomplete cleft formation in the lower jaw as an abortive form of a median facial cleft

Auricular malformation , possibly with appendages

pronounced short stature

spastic movement disorder , hypotonia and athetosis

severe intellectual disability, possibly seizures

broad thumbs and phalanges

accessory nipples

abnormal dermatoglyphs (fingerprints)

a coloboma can also occur.

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome. In: Orphanet (Rare Disease Database).
↑ G. Neuhäuser, EG Kaveggia, JM Opitz: Studies of malformation syndromes of man XXXVIII: The BD syndrome. A "new" multiple congenital anomalies / mental retardation syndrome with athetoid cerebral palsy. In: Journal of Pediatrics. Vol. 120, No. 3, September 1975, pp. 191-198, PMID 1179793 .

Web links

Right diagnosis

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome. In: Orphanet (Rare Disease Database).

[3] G. Neuhäuser, EG Kaveggia, JM Opitz: Studies of malformation syndromes of man XXXVIII: The BD syndrome. A "new" multiple congenital anomalies / mental retardation syndrome with athetoid cerebral palsy. In: Journal of Pediatrics. Vol. 120, No. 3, September 1975, pp. 191-198, PMID 1179793 .