Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal. Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome is a rare form of ectodermal dysplasia, an autosomal. Disease definition. EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/ palate).

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They suggested that there is an association with isolated growth hormone deficiency, the ectrodactyly-ectoxermal being secondary to developmental hypothalamic defects. Expert curators review the literature and organize it to facilitate your work.

Testing is available only on a clinical basis. Routine fetal diagnostic extrodactyly-ectodermal They suggested that the Rapp-Hodgkin type of ectodermal dysplasia with clefting may be fundamentally the same condition as EEC.

Individuals tend to be fair skinned and have sparse, coarse, slow-growing scalp hair. There was no oral clefting. The treatment of EEC syndrome is directed toward the specific symptoms that are ectrodactyly-ectoderaml in each individual. The other cases correspond to EEC syndrome type 1, which shows associated clinical features such as malformedauricles and middle and inner ear malformations, and was mapped to 7q Am J Dis Child ; Sctrodactyly-ectodermal is much discrepancy in the literature regarding the exact nature of the facial clefting involved in EEC.

Ectrodactyly – ectodermal dysplasia – cleft lip/palate syndrome: a rare entity

However, some individuals have only mild malformation or are unaffected. Table 1 Sweat pore count. Genetic counseling may benefit the affected individuals and their families. The common features are autosomal dominant, caused by mutation of TP63 gene, hypohydrosis, sparse hair and hypodontia.


Clinical description The three cardinal signs of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate that can result in speech defectsand abnormalities in several ectodermal structures including skin i. Molecular analysis by chorionic villi sydrome or by amniocentesis helps in confirming the diagnosis for families for which the disease-causing mutation was identified.

The symptoms of EEC syndrome are highly variable, even among members of the same family. Its non- syndromic characteristic differentiates from EEC syndrome. The scalp, hair and eyebrows were light, short, thin, brittle and kinky.

Rare Disease Database

The protein product of the gene is known as p Summary and related texts. The dysplasia-clfting case could be a ydsplasia-clefting one ecttrodactyly-ectodermal there was no previous history of the disorder in the family. Additional distinctive facial features can occur including an undeveloped upper jaw maxillary hypoplasiaa broad nasal tip, an abnormally long groove philtrum between the nose and the upper lip, and narrowing or blockage of the nasal airways choanal atresia.

In addition, individuals who inherited a defective gene for EEC syndrome will not develop all of the symptoms discussed above reduced penetrance. Additional symptoms can include slow-growing, thin, malformed dysplastic nails and missing, malformed or underdeveloped teeth hypodontia.

Clinical Synopsis Toggle Dropdown. Her father had normal dark hair, dry skin, split right hand, bifid right thumb, and flexion contracture of the distal phalanx of the left index finger. Views Read Edit View history.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

In Ectrodacthly-ectodermal syndrome, this generally affects the hair, teeth, nails, skin and sweat glands. The cosmetic aspects of EEC can have a tremendous impact on quality of life. Extraoral examination showed thin and sparse hair on the scalp that was lighter in color, frontal bossing, ectrodactyly-ectdermal nasal bridge, sparse eyelashes on the lower eyelids, dry and warm facial skin, and a surgical scar on the upper lip that was operated.


Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. The facial and limb differences can be socially isolating and physically challenging for both children and adults. The right hand showed clefting between the second and fourth digits with the absence of the third digit.

Ectodermal dysplasia, by study definition, was present in all cases and hair and teeth were universally affected. About News Events Contact. Intelligence is usually unaffected in children with EEC syndrome. Clinical Synopsis Toggle Dropdown. The added Zmax across these families was 8.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

He had underdevelopment of the central digital rays of both hands and feet, sparse hair, and thin and sctrodactyly-ectodermal skin. Because of this variability, it is possible that there is more than one genetic locus involved in the actual manifestation of the syndrome in any given person. You can help by adding to it.

AntenatalNeonatal ICD Syndromic ectrodactylywith severe limb, ectodermal, urogenital and palatal defects map to chromosome The diagnosis is based on clinical examination, X-rays of the limbs dysplwsia-clefting jaw, and, according to the associated features, kidney ultrasound, ophthalmologic examinations, and skin biopsy. A small percentage of cases with features resembling EEC syndrome are caused by chromosomal abnormalities. He also had enamel hypoplasia and partial adontia.