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Weaver Syndrome

Ken Fasman ken at oscar.gdb.org
Thu Mar 10 17:58:39 EST 1994

In article <2li56f$b8j at gazette.medtronic.COM>, mb11329 at medtronic.COM (Minda Bourdage) writes:
|> I am interested in finding out any information about
|> Weaver syndrome.  I would like to know what the 
|> physical characteristics are, symptoms and what is
|> the cause (whether or not it is genetic).

The following information is obtainable from OMIM, the Online Mendelian 
Inheritance in Man database, part of the GDB Human Genome Data Base.  For 
information on accessing OMIM and/or GDB, please contact GDB User Support 
at help at gdb.org, 410-955-9705 (voice), or 410-614-0434 (fax).

Ken Fasman
Informatics Director
Genome Data Base
Johns Hopkins University School of Medicine
2024 E. Monument St.
Baltimore MD  21205



Weaver et al. (1974) described a syndrome of accelerated growth and
osseous maturation, unusual craniofacial appearance, hoarse and
low-pitched cry, and hypertonia with camptodactyly. Reports by Gemme et
al. (1980), Weisswichert et al.(1981), Hall (1985), and Ardinger et
al.  (1986) suggested that the Weaver syndrome (also called the
Weaver-Smith syndrome) is a distinct entity. Other features included
psych omotor delay, looseness of skin, and hernias. Most of the some 21
cases reported after the original article by Weaver et al. (1974) have
been sporadic (Teebi et al., 1989).  For this reason, as well as the
fact that the diagnosis in all cases has not been considered completely
certain (Fitch, 1985), it is difficult to draw any definite conclusions
about a possible genetic basis. Teebi et al. (1989) described a brother
and sister, born to consanguineous Bedouin parents, who showed
manifestations resembling Weaver syndrome. Both had accelerated growth
of prenatal onset, hypotonia, psychomotor retardation, excess loose
skin, peculiar craniofacial and acral anomalies, dental dysplasia
and/or serrated gums, joint laxity, and hoarse, low-pitched cry. One of
them had accelerated harmonic skeletal maturation. The acral anomalies
included short fifth digit with clinodactyly V. However, Cole et al.
(1992) questioned that either case reported by Teebi et al. (1989) had
the Weaver-Smith (WSS) syndrome. The younger sib did not exhibit
accelerated growth and had delayed bone maturation at the age of 13
months. Dawood (1985) reported a patient whose case was also pictured
by Beighton (1988). The child weighed 10.2 kg at birth and had large
ears, long philtrum, and protuberant lower lip, as well as an umbilical
hernia and excessive skin folds. At the age of 14 months, he weighed 30
kg, and progressive thoracolumbar kyphosis associated with
platyspondyly and vertebral wedging had developed. Roussounis and
Crawford (1983) reported affected sibs. However, Cole et al. (1992)
reported on a follow-up of the surviving sib; chromosome analysis
showed a 46,XX,5p- karyotype, indicating that this recognized
chromosomal syndrome was the likely diagnosis. Greenberg et al.  (1989)
described a patient with presumed Weaver syndrome who was followed for
more than 20 years. At the age of 25, her height (187 cm), as well as
her weight and head circumference, was above the 98th centile. The
'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and
son may be a separate entity. See 143200 for a discussion of the
relationship to the Marshall-Smith syndrome. Cole et al. (1992)
presented the details of 4 new cases of Weaver-Smith syndrome and
reviewed the published reports. They suggested that in the early years
of life the facial features are characteristic; despite retrognathia,
the chin is distinctive and may be dimpled. Bone age is advanced. Cole
et al. (1992) pointed out that WSS may be difficult to differentiate
from Sotos syndrome (117550), but early photographs may be
distinguishing because there is likely to be a longer face and jaw in
Sotos syndrome than in WSS. Dumic et al.  (1993) described unlike-sex
twins with this disorder, thought to be in classic form, and their
mildly affected mother. They suggested autosomal dominant inheritance.
The twins showed overgrowth, macrocephaly, and unusual facial features.
The mother showed macrocephaly, long philtrum, hoarse voice, large
ears, and hyperextensibility of the fingers--all features found in both
twins. All 3 showed palmar and plantar hyperhidrosis, and the twins
showed nail dysplasia.


[1] Ardinger, H. H.; Hanson, J. W.; Harrod, M. J. E.; Cohen, M. M.; Tibbles, J. A. R.;
Welch, J. P.; Young-Wee, T.; Sommer, A.; Goldberg, R.; Shprintzen, R. J.; Sidoti, E. J.;
Leichtman, L. G.; Hoyme, H. E.
   Further delineation of Weaver syndrome
   J. Pediat. 108:228-235; 1986

[2] Beighton, P.
   Inherited Disorders of the Skeleton
   London: Churchill Livingstone 2nd; :455; 1988

[3] Cole, T. R. P.; Dennis, N. R.; Hughes, H. E.
   Weaver syndrome
   J. Med. Genet. 29:332-337; 1992

[4] Dawood, A. A.
   Weaver's syndrome--primordial excessive growth velocity: a case report
   S. Afr. Med. J. 67:646-648; 1985

[13] Dumic, M.; Vukovic, J.; Cvitkovic, M.; Medica, I.
   Twins and their mildly affected mother with Weaver syndrome
   Clin. Genet. 44:338-340; 1993

[14] Fitch, N.
   Update on the Marshall-Smith-Weaver controversy. (Letter)
   Am. J. Med. Genet. 20:559-562; 1985

[5] Gemme, G.; Bonioli, E.; Ruffa, G.; Lagorio, V.
   The Weaver-Smith syndrome
   J. Pediat. 97:962-964; 1980

[6] Greenberg, F.; Wasiewski, W.; McCabe, E. R. B.
   Weaver syndrome: the changing phenotype in an adult
   Am. J. Med. Genet. 33:127-129; 1989

[7] Hall, B. D.
   Weaver syndrome: expanded natural history
   Prog. Clin. Biol. Res. 200:123-144; 1985

[8] Roussounis, S.; Crawford, M.
   Siblings with the Weaver syndrome
   J. Pediat. 102:595-597; 1983

[9] Stoll, C.; Talon, P.; Mengus, L.; Roth, M. P.; Dott, B.
   A Weaver-like syndrome with endocrinological abnormalities in a boy and his
   Clin. Genet. 28:255-259; 1985

[10] Teebi, A. S.; Sundareshan, T. S.; Hammouri, M. Y.; Al-Awadi, S. A.; Al-Saleh, Q. A.
   A new autosomal recessive disorder resembling Weaver syndrome
   Am. J. Med. Genet. 33:479-482; 1989

[11] Weaver, D. D.; Graham, C. B.; Thomas, I. T.; Smith, D. W.
   A new overgrowth syndrome with accelerated skeletal maturation, unusual
   facies, and camptodactyly
   J. Pediat. 84:547-552; 1974

[12] Weisswichert, P. H.; Knapp, G.; Willich, E.
   Accelerated bone maturation syndrome of the Weaver type
   Europ. J. Pediat. 137:329-333; 1981


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