*164280 OCULODIGITOESOPHAGODUODENAL
SYNDROME
Alternative
titles; symbols
ODED SYNDROME
MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL
SYNDROME; MODED
DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND
ATRESIA OF ESOPHAGUS, OR DUODENUM
FEINGOLD SYNDROME
table OF
CONTENTS
Note: pressing the 
symbol will find the citations in MEDLINE whose
text most closely matches the text of the preceding
OMIM paragraph, using the Entrez MEDLINE
neighboring function.
TEXT
Brunner and Winter
(1991) reported 2 families with an autosomal
dominant syndrome of abnormalities of the hands and
feet with short palpebral fissures, variable
microcephaly with learning disability, and
esophageal/duodenal atresia. The hand anomalies
included flexion deformity of the middle finger and
clinodactyly of the second and fifth fingers. Foot
anomalies included bilateral syndactyly of toes 2/3
and 4/5. In the first family the mother and 2 sons
were affected and 8 other family members had the
same abnormalities of the hands and feet, 3 of
these had had operations in the neonatal period for
esophageal or duodenal atresia or both. There were
no instances of male-to-male transmission. There
was no consanguinity in family 1 or in family 2. In
the second family a mother and son and daughter
were affected. Two previously reported families, 1
with 3 affected and 1 with 4 affected, were also
analyzed, and a report of affected mother and son
by Konig et al. (1990)
was noted. The phenotype of the syndrome was
similar to that observed with 13q22-qter deletion.
However, chromosome analysis detected no structural
abnormality in these familial cases.
Feingold (1975)
reported on a father, son, and grandmother with
microcephaly, hand abnormalities, tracheoesophageal
fistula, duodenal atresia, and normal intelligence.
Feingold (1978) reported
a mother and daughter with similar findings except
for the absence of tracheoesophageal fistula and
duodenal atresia. Konig et
al. (1990) described a mother and son, and
Brunner and Winter (1991)
reported 2 other families with findings similar to
the patients described by Feingold (1975,
1978). Feingold
et al. (1997) reported on 6 new families (12
new patients) with this syndrome, updated the
findings of the original families, and more clearly
defined the syndrome. The most common findings were
hand abnormalities, microcephaly, short and/or
narrow palpebral fissures, broad nasal bridge,
anteverted nostrils, ear abnormalities, and
micrognathia. Inheritance was autosomal dominant.
The features showed a significant amount of
intrafamilial variability, especially as it related
to the gastrointestinal findings. Although the
first patients reported, who were very young,
exhibited no developmental delay, they subsequently
developed learning problems, and 87% of the 12
patients had mental retardation or learning
difficulties. Typical hand findings, short second
and fifth fingers, and clinodactyly and hypoplasia
of the middle phalanx, were pictured. Autosomal
dominant inheritance was supported by the finding
in the first family of male-to-male transmission
(Feingold, 1975); in 8 of
the 11 reported families, there was transmission
through at least 2 generations. Brunner
and Winter (1991) noted that all of the
findings present in these patients were also found
in patients with deletions of chromosome 13 distal
to band 13q14. They raised the possibility of
chromosome 13 being a potential candidate for the
mutation that is responsible for this disorder.
Innis et al. (1997)
reported what appeared to be this same condition in
a family with 6 and probably 8 affected members in
3 generations, including instances of male-to-male
transmission. They referred to the condition as
autosomal dominant microcephaly with normal
intelligence, short palpebral fissures, and digital
anomalies. Affected individuals consistently had
microcephaly (OFC less than third centile) and
short palpebral fissures; however, there was
considerable variability and individual asymmetry
in the defects of the limbs. Major limb anomalies
were hypoplasia, slender thumbs with limited
flexion at the distal interphalangeal joints of
thumbs and some fingers, thin proximal first
metacarpals, and short middle phalanges of the
index and fifth fingers. None of the affected
persons had polyhydramnios or duodenal atresia but
1 individual had a history of tracheoesophageal
fistula. Taken together with previous reports, the
risk for TEF and/or duodenal atresia in this
disorder was 8 in 29, or approximately 28%.
Frydman et al. (1997)
described 4 families with what they considered to
be the same disorder. They called it
microcephaly-oculo-digito-esophageal-duodenal
syndrome, or MODED. The phenotype is inherited as
an autosomal dominant and includes microcephaly,
type A brachydactyly, variable learning
disabilities, short stature, duodenal atresia,
patent ductus arteriosus, hallux valgus, and a
variety of digital anomalies. The authors reviewed
previous reports, including their own observations.
Penetrance of digital anomalies was almost
complete. Microcephaly was present in 78% of known
cases. Esophageal and duodenal atresias were found
in 25% of known cases, but correction for
ascertainment bias gave an estimate of 16.6%.
Learning disabilities were seen in 31% of patients.
Courtens et al. (1997)
reported a seventh family with Feingold syndrome.
The propositus was a male infant with esophageal
and duodenal atresia, brachymesophalangy of the
fifth fingers, bilateral syndactyly of toes 4-5
(and 2-3), relative microcephaly, and facial
anomalies. His mother also had microcephaly,
similar facial appearance, short fifth fingers with
single flexion crease, syndactyly of toes 4-5, and
learning disabilities. A sister and brother of the
mother and her mother had the same phenotype. A
review of the 7 families with Feingold syndrome
demonstrated that intestinal (esophageal/duodenal)
atresia/obstruction occurs in approximately
one-third of patients with Feingold syndrome.
REFERENCES
- 1. Brunner, H. G.;
Winter, R. M. :
- Autosomal dominant inheritance of
abnormalities of the hands and feet with short
palpebral fissures, variable microcephaly with
learning disability, and oesophageal/duodenal
atresia. J. Med. Genet. 28:
389-394, 1991.
PubMed ID : 1870095
- 2. Courtens, W.;
Levi, S.; Verbelen, F.; Verloes, A.; Vamos, E.
:
- Feingold syndrome: report of a new
family and review. Am. J. Med.
Genet. 73: 55-60, 1997.
PubMed ID : 9375923
- 3. Feingold, M.
:
- Case report 30. Synd.
Ident. 3: 16-17, 1975.
- 4. Feingold, M.
:
- An unusual microcephaly.
Hosp. Pract. 13: 44-49, 1978.
PubMed ID : 631836
- 5. Feingold, M.;
Hall, B. D.; Lacassie, Y.; Martinez-Frias, M.-L.
:
- Syndrome of microcephaly, facial and
hand abnormalities, tracheoesophageal fistula,
duodenal atresia, and developmental
delay. Am. J. Med. Genet. 69:
245-249, 1997.
PubMed ID : 9096752
- 6. Frydman, M.;
Katz, M.; Cabot, S. G.; Soen, G.; Kauschansky,
A.; Sirota, L. :
- MODED:
microcephaly-oculo-digito-esophageal-duodenal
syndrome. Am. J. Med. Genet.
71: 251-257, 1997.
PubMed ID : 9268091
- 7. Innis, J. W.;
Asher, J. H., Jr.; Poznanski, A. K.; Sheldon, S.
:
- Autosomal dominant microcephaly with
normal intelligence, short palpebral fissures,
and digital anomalies. Am. J. Med.
Genet. 71: 150-155, 1997.
PubMed ID : 9217213
- 8. Konig, R.;
Selzer, G.; Stolp, A.; Fuchs, S. :
- Microcephaly, mesobrachyphalangy,
and tracheoesophageal fistula: MMT
syndrome. Dysmorph. Clin.
Genet. 4: 83-86, 1990.
CLINICAL
SYNOPSIS
View
Clinical Synopsis Entry
CONTRIBUTORS
Victor A. McKusick - updated : 12/1/1997
Clair A. Francomano - updated : 10/20/1997
Victor A. McKusick - updated : 8/25/1997
Victor A. McKusick - updated : 5/13/1997
Victor A. McKusick : 6/26/1991
EDIT HISTORY
carol : 4/30/1998
terry : 12/1/1997
alopez : 11/12/1997
alopez : 11/12/1997
alopez : 11/12/1997
dholmes : 10/22/1997
terry : 8/25/1997
mark : 5/13/1997
mark : 5/5/1997
mimadm : 12/2/1994
carol : 4/1/1992
supermim : 3/16/1992
carol : 7/1/1991
carol : 6/26/1991
|
