ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME PDF

Correspondence Address: Dr. E-mail: samratsabhlok yahoo. This syndrome has three main symptoms, which display variable expression and penetrance. The management of this syndrome is challenging, with few reports in the medical literature. We present a case of a year-old boy with EEC syndrome and offer insight into current knowledge about this syndrome. Subsequently, Walker and Clodius described three pedigrees with complete unilateral or bilateral clefts of the primary and secondary palate associated with lobster-claw hands and feet and malfunction of the lacrimal system.

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Ectodermal dysplasia is not a single disorder but a group of syndromes deriving from ectodermal structures such as skin, hair, nail and teeth. Despite some of the syndromes having different genetic causes, the symptoms are sometimes similar. The most common syndromes within this group are hypohidrotic and hidrotic ectodermal dysplasias. Several ectodermal dysplasia syndromes may manifest with midfacial defects, mainly cleft lip and palate. The two forms of EEC are found a cleft lip with or without cleft palate and b with cleft palate alone.

The family history was non-contributory and gave no history of consanguineous marriage between parents. The parents also reported about reduced sweating, intolerance to heat, intermittent fevers and reduced amount of tears while crying. Extraoral examination showed thin and sparse hair on the scalp that was lighter in color, frontal bossing, depressed nasal bridge, sparse eyelashes on the lower eyelids, dry and warm facial skin, and a surgical scar on the upper lip that was operated.

Intraorally there were multiple grossly decayed and hypoplastic teeth, pointed crowns of canines, absence of maxillary primary lateral incisors and a repaired cleft palate. Considering the clinical signs and symptoms a provisional diagnosis of Ectrodactyly-ectodermal dysplasia clefting syndrome or EEC syndrome was made. A- P view of hands. A- P views of feet.

Bold value is less than normal, indicating decreased sweating hypohidrosis. Bold value is less than normal indicating decreased tear production. EEC syndrome a genetic developmental disorder distinctly featuring ectrodactyly, ectodermal dysplasia and facial clefts may also be noticed with characterstics like recurrent urinary tract infections, vesiculioureteral reflux, photobia, anomalies of kidney, hearing loss and speech defects.

EEC is autosomal which means that there is an abnormal gene on one of the autosomal non-sex chromosomes from either parent. The gene is dominant, only one parent must contribute the abnormal gene for the child to inherit the disease and the contributing parent will usually have the disease, due to the expression of the dominant gene in the parent. Although, it is an autosomal dominant, some cases occur sporadically without previous history of the disorder i. The present case could be a sporadic one as there was no previous history of the disorder in the family.

Evaluating the etiology, chromosome 19, within the region of D19S and D19S has been postulated as the locus for the abnormalities observed in EEC syndrome. TP63 gene contains instructions for synthesizing a protein that is essential for the proper development of the limbs and structures derived from the ectoderm.

Mutations of this gene lead to a reduction of functional levels of normally functioning P63 protein which interferes the proper development of these structures. In rare cases, individuals with EEC syndrome carry chromosomal disruptions on the long arm of chromosomes 7 7q 1.

And a disorder designated as EEC syndrome type 2 no longer exists. Some cases of EEC may be due to Gondal Mosaicism or Germilne Mosaicism, a condition in which some of the reproductive cells germ cells carry the mutations, while others contain a normal cell line Mosaicism. Ectodermal dysplasia describes abnormalities of structures derived from the embryonic ectoderm and affects epidermis, mammary, pituitary and sweat glands, enamel, nail, lens and ears. In addition to ectodermal, neuroectodermal and mesectodermal derivatives are often found.

While others include cleft palate only CPO in conjunction with ectrodactyly and ectodermal dysplasia to be sufficient for the diagnosis of EEC. Breathy voice may be noticed because the vocal folds may not be hydrated well due to reduced number of sweat glands and a complete seal between the folds is not accomplished leading to air escapement.

Without normal sweat production the body cannot regulate temperature properly leading to overheating and hyperthermia which could result in permanent brain damage or even death.

Some of the disorders may be similar to EEC syndrome and a comparison may be useful for differential diagnosis. The common features are autosomal dominant, caused by mutation of TP63 gene, hypohydrosis, sparse hair and hypodontia.

But absence of ectrodactyly differentiates it form EEC syndrome. Lack of facial clefts and ankyloblepharon differentiates from EEC syndrome. Its non- syndromic characteristic differentiates from EEC syndrome. Diagnoisis of the present case was based on identification of characteristic signs and symptoms i.

OPG revealed hypodontia due to the congenital absence of primary maxillary lateral incisors and tooth buds of permanent teeth except first permanent molars, right maxillary central incisor and right maxillary canine, grossly decayed teeth and pointed crowns of canines. A-P view of hands and feet showed a claw- like deformity due to ectrodactyly.

There is median cleft in the hands and feet due to the absence of central rays giving rise to lobster. Schirmer test determined the amount of tear production and showed less than normal values i. Molecular genetic testing to detect mutation in the TP63 gene or chromosomal abnormalities.

Management needs a systematic and comprehensive approach, is directed towards the specific signs and symptoms, require a team of specialists including pediatrician, pediatric surgeon, plastic surgeon, orthopedic surgeon, orthopedists, dentist, speech therapist and other health care professionals. Early diagnosis would help parents to get accurate counseling. Genetic counseling may benefit the affected individuals and their families.

Future genetic research should be emphasized to identify the loci contributing to EEC syndrome, to differentiate it from other syndromes and to help in diagnosis and treatment plan. National Center for Biotechnology Information , U. J Oral Biol Craniofac Res. Published online Aug Monika Koul a Professor and H. Rahul Dwivedi b Sr. Author information Article notes Copyright and License information Disclaimer.

Monika Koul: ni. Received Jun 5; Accepted Aug 5. All rights reserved. This article has been cited by other articles in PMC. Introduction Ectodermal dysplasia is not a single disorder but a group of syndromes deriving from ectodermal structures such as skin, hair, nail and teeth. Open in a separate window. Ectrodactyly of hands and feet showing lobster — claw like deformity. Investigations performed 1. Table 1 Sweat pore count. Table 2 Schirmer test.

Discussion EEC syndrome a genetic developmental disorder distinctly featuring ectrodactyly, ectodermal dysplasia and facial clefts may also be noticed with characterstics like recurrent urinary tract infections, vesiculioureteral reflux, photobia, anomalies of kidney, hearing loss and speech defects.

Other tests may be used to confirm diagnosis of EEC 1. Conclusion Early diagnosis would help parents to get accurate counseling. Conflicts of interest All authors have none to declare. References 1. Thurman J. Two cases in which the skin, nails and teeth were very imperfectly developed. Med Chir Trans. Marwaha Mohit, Nanda Kanwar Singh.

Rudigar R. Association of ectrodactyly—ectodermal dysplasia and cleft lip and palate. Am J Dischild. Pinheiro M. Ectodermal dysplasia: a clinical classification and a casual review. Am J Med Gent.

Orphanet: EEC Syndrome. Brunner H. The P 63 gene in EEC and other syndrome. J Med Genet. O'Quinn J. Syndromic ectrodactylywith severe limb, ectodermal, urogenital and palatal defects map to chromosome Am J Genet. Ruhin B. Pure ectodermal dysplasia: retrospective study of 16 cases and literature review.

Cleft Palate Craniofac J. Barrow L. Analysis of the P 63 gene in classical EEC syndrome, related syndrome and non- syndromic orofacial clefts. Rapp—Hodgkin Syndrome. Orphanet; Niley Black well. Support Center Support Center. External link. Please review our privacy policy.

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Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources.

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EEC syndrome

Only one family has been identified with EEC 1 and 2. A diagnosis of EEC syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. EEC can be diagnosed with a blood test to do a genetic test. EEC syndrome affects males and females in equal numbers. The exact incidence and prevalence of the disorder in the general population is unknown. If you want to read about individuals who are affected by EEC syndrome, you can read about artist Elizabeth Hoverman , Suzanne Brown and the three amigos. This may cause inflammation of the eyelids, cornea, and conjunctiva Abnormal function of stem cells for the cornea.

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Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

P, India. Ectrodactyly-ectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactyly-ectodermal dysplasia and facial clefting of lip or palate or both along with some systemic manifestations. Although each defect that comprises the syndrome has been known to occur as a separate entity, the congregation of all three anomalies in a single individual appears to be an extremely rare occurrence, with incidence being approximately 1. Early diagnosis and management of clinical manifestations associated with ectrodactyly-ectodermal dysplasia clefting syndrome present a unique challenge. We report a case of this rare disorder in an year-old male patient along with its dental management using a multidisciplinary approach.

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