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[OCOSH Code: D004480 13624003 Q71.6 HD_CHD_FP_CH]

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CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600460

Alternative titles;
CCGE
ACROCARDIOFACIAL SYNDROME; ACFS
Richieri-Costa and Orquizas (1987) reported the case of a Brazilian boy, born to healthy, consanguineous parents, who was affected by a constellation of malformations including ectrodactyly, cleft lip/palate, congenital heart defect, genital anomalies, and mental retardation. Giannotti et al. (1995) reported a brother and sister, offspring...
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Ectrodactyly and ectodermal dysplasia without cleft lip and palate OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129810

129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE
Alternative titles
EEC SYNDROME WITHOUT CLEFT LIP/PALATE
In 4 generations of a Mauritian family, Wallis (1988) described ectrodactyly (split-hand/split-foot) and ectodermal dysplasia without clefting of the lip or palate as is seen in the classic EEC syndrome (129900). The ectrodactyly ranged from virtual normality to...
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Ectrodactyly ectodermal dysplasia and cleft lip and palate 3 OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604292

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
Alternative titles;
EEC SYNDROME 3
The features of EEC syndrome are ectrodactyly of hands and feet, ectodermal dysplasia, and cleft lip/palate. Maas et al. (1996) found great variability in the clinical manifestations of EEC in affected members of a large Dutch kindred.
Kosaki et...
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Ectrodactyly ectodermal dysplasia and cleft lip and palate OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=129900

%129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1
Alternative titles;
EEC
EEC SYNDROME 1
Rudiger et al. (1970) suggested the designation EEC for the syndrome observed in a female child. The features were ectrodactyly of both hands and one foot, ectodermal dysplasia with severe keratitis, and cleft lip/palate.
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ectrodactyly OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225300

225300 ECTRODACTYLY
Alternative titles;
ABSENCE OF FINGERS
When hereditary, this trait usually behaves as a dominant (183600). However, Klein (1932) described an affected boy and girl, born from the mating between a man and the daughter of his half brother. Verma et al. (1976) described split-hand and split-foot in a consanguineous kindred,...
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Ectrodactyly Polydactyly OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225290

225290 ECTRODACTYLY-POLYDACTYLY
Van Regemorter et al. (1982) reported polydactyly and ectrodactyly in a sibship of 4 children. One boy and one male twin had postaxial polydactyly, while the male monozygotic cotwin had a lobster-claw deformity of the right foot and the fourth child, a girl, had absence of the phalanges of...
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Split Hand Foot Malformation 3 OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600095

%600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3
Alternative titles;
SHSF3
Split-hand/split-foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM3 have been found to have mental...
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Split Hand Foot Malformation 5 SHFM5 OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606708

%606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5
Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM5 have been found to have mental retardation,...
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Split hand foot malformation OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183600

%183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1
Alternative titles;
SPLIT-HAND/FOOT DEFORMITY 1; SHFD1; SHSF1
SPLIT-HAND DEFORMITY
ECTRODACTYLY; ECD Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with...
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Split Hand Foot Malformation with sensorimotor hearing loss OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=220600

%220600 SPLIT-HAND/FOOT MALFORMATION WITH SENSORINEURAL HEARING LOSS
Alternative titles;
SHFM1D DEAFNESS, CONGENITAL, AND SPLIT HANDS AND FEET
Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals.
Wildervanck (1963)...
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Split hand foot with long bone deficiency OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119100

%119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1
Alternative titles;
CLEFT HAND AND ABSENT TIBIA
APLASIA OF TIBIA WITH ECTRODACTYLY
TIBIAL APLASIA WITH SPLIT-HAND/SPLIT-FOOT DEFORMITY
ECTRODACTYLY WITH APLASIA OF LONG BONES
Roberts (1967) described a family in which persons in 4 generations had one cleft hand with a missing middle finger and flexed ring...
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Unilateral bifid femur with monodactylous ectrodactyly OMIM

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228250

%228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY
Alternative titles;
GOLLOP-WOLFGANG COMPLEX; GWC
Gollop et al. (1980) described 2 brothers, each with 1 normal upper limb; 1 had tridactylous ectrodactyly of 1 hand with normal radius and ulna, and the other had monodactyly of 1 hand with absent ulna. Both had monodactyly of...
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