Ectrodactyly-ectodermal dysplasia-cleft syndrome

Ectrodactyly

• A.K.A. lobster claw syndrome• “derived from the Greek ektroma (abortion)

and daktylos (finger) = literally, abortion (of a) finger.” (medterms.com)

• rare deformation that happens during the pregnancy

• It can be a morphogenesis(process that chooses the shape of the fetus)Or a chromosomal deformity since the time of fertility

• It is caused by a dominant mutant allele • Only happens in hands or feet with effects in

other parts of the body

• Deformation in the ectoderm layer• Can happen with no family history• Can suffer from Ectodermal

Dysplasia(irregluar skin and hair glands) at the same time

• Also with a Cleft Lip/Palate • Hypopigmentation of the skin and hair • Abnormalities in hair, lip, tooth and palate

Consequences

• Physical challenge• Social isolated

• Problems in many parts of the body some are in the– Skin• dry skin • lack of sweat pores • thined skin• thickened skin

– Hair• dry, brittle hair • generalized depigmentation of

hair • fine hair

– Eyes• nasolacrimal duct obstruction

(tear duct obstruction) • excessive lacrimation (tears) • corneal ulcers and scarring • photophobia

Diagnosis

• DNA tests can help• Ectoderm examinations( not that precise

because of the overlap in symptoms)• Kidney structure abnormality• X rays help view the abnormalities• Skin biopsy( sweat glands not normal in shape

and size, skin cells abnormal)

Treatment and Management

• No cure• Surgery• Dental Care• Prevention with abnormalities in

hypohydrosis( over sweating)

Examples (Videos)

• http://www.youtube.com/watch?v=XP4HPj4-EU4

• http://wtfwear.blogspot.com/2007/04/entire-population-of-people-with.html

•

• http://en.wikipedia.org/wiki/Ectrodactyly• http://www.medterms.com/script/main/art.asp?articlekey=136

13• http://specialchildren.about.com/od/diagnosisindex/g/ectrodact

yly.htm• http://medical-dictionary.thefreedictionary.com/EEC+syndrom

e• http://www.healthline.com/galecontent/ectrodactyly-ectoderm

al-dysplasia-clefting-syndrome• http://images.google.com/imgres?imgurl=http://

dermatology.cdlib.org/124/case_reports/dysplasia/1.jpg&imgrefurl=http://dermatology.cdlib.org/124/case_reports/dysplasia/sankhyan.html&usg=__5rqqYa7_aiP3_RgyXRWHr71VfhM=&h=559&w=512&sz=53&hl=en&start=17&tbnid=ScDfdqJaZBJR_M:&tbnh=133&tbnw=122&prev=/images%3Fq%3DEctrodactyly%26gbv%3D2%26hl%3Den

• www.google.com