Biomaterial Database

Dorsal skin and fingernails on the volar aspect of the hand: an unusual anatomic deformity. 1982

M Kalisman, and R Goldberg, and A G Ship

A very unusual hand malformation is reported in which dorsal skin and nails exist on the volar aspect of the hands. This patient also exhibits mental retardation and microcephaly as well as a partial deletion of chromosome 6. Fifty percent of a small series of patients previously reviewed who presented with chromosome 6 abnormalities demonstrated abnormalities of the hands. Unusual deformities of the hands associated with mental retardation and microcephaly may be related to an abnormality of chromosome 6.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D009264	Nails, Malformed	Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.	Onychauxis,Onychogryposis,Nail Abnormalities,Nails, Abnormal,Pachyonychia,Abnormal Nail,Abnormal Nails,Abnormalities, Nail,Abnormality, Nail,Malformed Nail,Malformed Nails,Nail Abnormality,Nail, Abnormal,Nail, Malformed
D010855	Pierre Robin Syndrome	Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.	Glossoptosis, Micrognathia, and Cleft Palate,Pierre Robin Sequence,Pierre Robin's Sequence,Pierre-Robin Syndrome,Robin Sequence,Pierre Robins Sequence,Robin Syndrome, Pierre,Sequence, Pierre Robin,Sequence, Pierre Robin's,Sequence, Robin,Syndrome, Pierre Robin,Syndrome, Pierre-Robin
D002869	Chromosome Aberrations	Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.	Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002906	Chromosomes, Human, 6-12 and X	The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.	Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D006228	Hand Deformities, Congenital	Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.	Congenital Hand Deformities,Congenital Hand Deformity,Deformities, Congenital Hand,Deformity, Congenital Hand,Hand Deformity, Congenital
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012868	Skin Abnormalities	Congenital structural abnormalities of the skin.	Abnormalities, Skin,Abnormality, Skin,Skin Abnormality
D025063	Chromosome Disorders	Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)	Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome