(Ectrodactyly- ectodermal dysplaisa-cleft lip palate)
Acronym for "Ectrodactyly - Ectodermal dysplasia - Clefting".Very rare: 1/90,000. Transmission: autosomal dominant with incomplete penetrance and variable expressivity:
- in 90% of cases, transmission of a mutation in the TP63 gene in 3q27: EEC 3; other mutations in this gene cause very similar syndromes such as AEC, ADULT, Rapp-Hodgkin or Lim-Mammary syndrome (see these terms)
- or a mutation in a gene on 7q11.2: EEC 1; there are also deformities of the ear (pavilion, middle and inner ear).
When it is complete, this malformative syndrome associates:
- an ectrodactyly ("lobster claws"), with or without syndactyly of the hands and feet
- ectodermal dysplasia with hypopigmentation, scattered and thin hair, hypohidrosis by absence or rarity of sweat glands; dental abnormalities: small and fragile teeth: eye anomalies: imperforated lacrimal canals, photophobia, entropion. Dysplasia of nails
- a cleft lip or palate,
Occasional: choanal atresia, urogenital anomalies: renal or urethral agenesis, hydronephrosis. anal stenosis; hypoplasia of the thymus (with immune deficiency in these cases); panhypopituitarism or growth hormone deficiency.
Anesthetic implications:
thermal dysregulation (hyper- or hypothermia). Fragile dentition. Eye protection. Check endocrine and renal functions.
References :
- Mizushima A, Satoyoshi M.
Anaesthetic problems in a child with ectrodactyly, ectodermal dysplasia and cleft lip/palate. The EEC syndrome.
Anaesthesia 1992; 47:137-40.
- Batra P, Duggal R, Parkash H.
EEC syndrome: a case report.
J Indian Soc Pedo Prev Dent 2003; 21: 75-8.
- Sharma D, Kumar C, Bhalerao S, Pandita A, Shastri S, Sharma P.
Ectrodactyly, ectodermal dysplasia, cleft lip and palate (EEC syndrome) with Tetralogy of Fallot: a very rare association.
Frontiers in Pediatrics 2015; 3: article 51, doi 103389/fped.2015.00051
Foot ectrodactyly
Updated: June 2019