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Spondyloepiphyseal dysplasia congenita (abbreviated to SED more
often than SDC) is a rare
disorder of bone
growth that
results in dwarfism, characteristic...
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sensorineural deafness.
Arthrogryposis multiplex congenita CNS calcification.
Arthrogryposis multiplex congenita distal (AMCD), also
known as X-linked spinal...
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Pachyonychia congenita (often
abbreviated as "PC") is a rare
group of
autosomal dominant skin
disorders that are
caused by a
mutation in one of five different...
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Myotonia congenita is a
congenital neuromuscular channelopathy that
affects skeletal muscles (muscles used for movement). It is a
genetic disorder. The...
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Dyskeratosis congenita (DKC), also
known as Zinsser-Engman-Cole syndrome, is a rare
progressive congenital disorder with a
highly variable phenotype....
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Syphilis (/ˈsɪfəlɪs/) is a ****ually
transmitted infection caused by the
bacterium Treponema pallidum subspecies pallidum. The
signs and
symptoms depend...
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Paramyotonia congenita (PC) is a rare
congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia. This type of myotonia...
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Aplasia cutis congenita is a rare
disorder characterized by
congenital absence of skin.
Ilona J.
Frieden classified ACC in 1986 into 9
groups on the basis...
- fetalis,
keratosis diffusa fetalis,
harlequin fetus,: 562
ichthyosis congenita gravior Harlequin-type ichthyosis, 1886
Specialty Dermatology Symptoms...
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congenita,
paramyotonia congenita and
myotonic dystrophy.
Brody disease (a
disease of ion pump transport) has
symptoms similar to
myotonia congenita,...
