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Split-Hand/Foot Malformation

Known as: Ectrodactyly, FEWER DIGITS 
A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands… 
National Institutes of Health

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Clinical Data Interchange Standards Consortium TerminologyEctrodactylyHereditary DiseasesSplit hand foot deformity 1

Papers overview

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2012
2012
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting
The combination of holoprosencephaly and ectrodactyly, also known as Hartsfield syndrome, represents a unique genetic entity. An… 
Review
2000
Review
2000
Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion.
An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2… 
Review
1994
Review
1994
A contiguous gene deletion syndrome at 7q21‐q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly
Ectrodactyly is a genetically heterogeneous human limb developmental malformation with an autosomal locus at 7q21 designated… 
1991
1991
Potentiating effect of caffeine on the teratogenicity of acetazolamide in C57BL/6J mice.
Pregnant C57BL/6J mice were treated with 0 or 50 mg of caffeine (CAFF) per kg, and 0, 200 mg/kg (L) or 1,000 mg/kg (H) of… 
1987
1987
Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation.
1985
1985
Urinary tract involvement in EEC syndrome.
A patient with fully expressed, sporadic ectrodactyly, ectodermal dysplasia, and cleft lip and/or palate (EEC) syndrome with… 
1984
1984
Acetazolamide teratogenesis: interaction of maternal metabolic and respiratory acidosis in the induction of ectrodactyly in C57BL/6J mice.
Exposure of C57BL/6J mice to 20% CO2 for 8 hours on day 10 of gestation has been shown to produce right-sided postaxial forelimb… 
1980
1980
Monodactylous splithand-splitfoot
Monodactyly is a sign of at least 3 different types of autosomal dominant ectrodactyly. In the first type only the 1st and the… 
1978
1978
Incomplete EEC syndrome in a patient with mosaic monosomy 21.
Chromosome anomalies in cases of ectrodactyly, ectodermal dysplasia and cleft of the lip and palate (EEC syndrome) have now been… 
1971
1971
Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter.
1. A family is reported in which tibial aplasia with polydactyly of hands and feet and absent thumbs occurred in a father and… 
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