Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > EEC syndrome

EEC syndrome

MIM.129900

Monday 9 May 2005

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