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Cutaneous finger syndactyly

Known as: Cutaneous syndactyly of fingers, Cutaneous syndactyly of hands, Webbed skin of fingers 
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a… Expand
National Institutes of Health

Related topics

Related topics

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Winter Shortland Temple syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome
Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and… Expand
2012
2012
Apert Syndrome with Fused Thalami
Apert syndrome (Acrocephalosyndactyly type I; AS) is a rare but well-known autosomal dominant disorder characterized by… Expand
2011
2011
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3
Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial… Expand
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2011
2011
Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling.
Fraser syndrome is a rare autosomal recessive genetic disorder characterized by cryptophthalmus, variable expression of cutaneous… Expand
2001
2001
Prenatal diagnosis of mosaicism for triploidy and trisomy 13
Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies… Expand
2001
2001
Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple café-au-lait spots: new acrocraniofacial…
We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia… Expand
1998
1998
Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.
We report on an 18-year-old man with moderate mental retardation, multiple congenital anomalies and partial trisomy 7q21.2-->q22… Expand
1997
1997
The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family.
We report two siblings--a 5 1/2 year old female and her 4 1/2 year old brother, both presenting the classical clinical findings… Expand
1996
1996
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.
We describe the clinical manifestations of an autosomal dominant form of craniosynostosis in a large family with eight affected… Expand
1989
1989
Oto-palato-digital syndrome in an Iranian infant.
A male infant is presented with wide fontanels, micrognathia, mid-face hypoplasia, hypertelorism, broad nasal root, down-slanting… Expand
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