EEC syndrome
MIM.129900
Autosomal dominant association ectodermal dyslasia, ectrodactyly and clefting.
Synopsis
large nephrogenic cyst (#15791665#)
severe oligohydramnios (#15791665#)
hydrops fetalis (#15791665#)
maxillary hypoplasia
mild malar hypoplasia
hearing loss
small auricles
malformed auricles
blue irides
photophobia
Bbepharophimosis
blepharitis
dacryocystitis
lacrimal duct abnormalities
sparse eyebrows and eyelashes
flat nasal tip
xerostomia
absence of Stensen duct
selective tooth agenesis
microdontia
caries
choanal atresia
hypoplastic nipples
micropenis
cryptorchidism
transverse vaginal septum
renal agenesis
renal dysplasia
hydronephrosis
duplicated collecting system
megaureter
vesicoureteral reflux
ureterocele
bladder diverticula
syndactyly
ectrodactyly
syndactyly
ectrodactyly
fair skin
mild hyperkeratosis
dystrophic nails
pitted nails
light colored hair
sparse scalp hair, thin scalp hair
sparse pubic hair
sparse axillary hair
sparse eyebrows
sparse eyelashes
mental retardation (7%)
semilobar holoprosencephaly
growth hormone deficiency
hypogonadotropic hypogonadism
central diabetes insipidus
thymic hypoplasia (#9066885#)
reduction of T cells in secondary lymphatic organs (#9066885#)
Etiology
3 loci
EEC1 at 7q11.2-q21.3
EEC2
EEC3: germline mutations in the TP63 (TP73L) gene (MIM.603273)
References
Chuangsuwanich T, Sunsaneevithayakul P, Muangsomboon K, Limwongse C. Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature. Prenat Diagn. 2005 Mar;25(3):210-5. PMID: #15791665#
Frick H, Munger DM, Fauchere JC, Stallmach T. Hypoplastic thymus and T-cell reduction in EECUT syndrome. Am J Med Genet. 1997 Mar 3;69(1):65-8. PMID: #9066885#