Congenital malformations - Edocr

CHAPTER 6 ENCEPHALOCELE 55
TABLE 6-2 Syndromes Associated with Encephaloceles
Syndromes Other Clinical Findings Etiology
Amniotic band syndrome Irregular disruption of skull and Amnion disruption
(Amnion disruption sequence) facial structures; facial clefts;
limb and digital constrictions
and amputation-type defects
Apert syndrome Craniosynostosis; syndactyly Autosomal dominant
both hands and both feet
FGFR2, 10q26
Chromosome anomalies Multiple minor and major Trisomies (13, 18);
anomalies in various organ
deletions, duplications
systems
Dyssegmental dysplasia Skeletal dysplasia with very Autosomal recessive
(Silverman-Handmaker) short limbs; oral clefts; HSPG2, 1p36.1
stillborn or early neonatal
perlecan
death
Fraser syndrome Syndactyly; eyelid fusion; Autosomal recessive
abnormal ears; laryngeal
FRAS1, 4q21
anomalies; renal FREM2, 13q13.3
agenesis/dysgenesis;
abnormal genitalia; mental
retardation
Frontonasal dysplasia Widow’s peak; hypertelorism; Sporadic, occasionally
broad or bifid nose; median
autosomal dominant
cleft lip; variable mental
retardation
(Frontonasal encephalocele)
Meckel-Gruber syndrome Microphthalmia; cleft lip/palate; Autosomal recessive
cystic kidneys; polydactyly 8q24
11q13
17q23
MURCS association Short stature; cervicothoracic Unknown
vertebral defects; absence of
proximal 2/3 of vagina and
uterus; renal agenesis
or ectopia
Pallister-Hall syndrome Dysmorphic facies; cleft palate; Autosomal dominant
polydactyly; syndactyly; renal GLI3, 7p13
anomalies; anal atresia;
hypothalamic hamartoma
Roberts SC-phocomelia
syndrome
Microcephaly; growth failure;
cleft lip/palate; limb deficiency;
mental retardation
Walker-Warburg syndrome Lissencephaly; cerebellar Autosomal recessive
malformations; retinal dysplasia, POM1, 9q34.1
microphthalmia; congenital POM2, 14q24.3
muscular dystrophy FCMD, 9q3.1