Additional abnormalities have been reported in association with CZS, including coronal hypospadias, bilateral cryptorchidism, respiratory distress, hypoglycemia, both increased muscle tone and mild hyperreflexia as well as decreased muscle tone, bilateral acetabular dysplasia,
amyoplasia of the lower limbs, and pulmonary hypoplasia.
In 1932, the specific name of
amyoplasia was given by Sheldon.
Amyoplasia is characterized by severe joint contractures and muscle weakness.
Special facies or facial asymmetry, skin manifestations, fundus pigmentry abnormalities, facial palsy, musculoskeletal abnormalities (aplasia of the first two ribs, lack of differentiation of the small carpal bones, cystic formation of the sacrum, abnormalities of arms like
amyoplasia and stiffness of the joints, and cutaneous syndactyly), microcephaly, mental retardation and hirschsprung disease have also been revealed in the literature.
org 1,2,3,4,7,9 AMSTERDAM DWARF SYNDROME OF DE LANGE See: Cornelia de Lange Syndrome AMYLO-1, 6-GLUCOSIDASE DEFICIENCY See: Glycogen Storage Diseases; Muscular Dystrophy AMYLOPECTINOSIS See: Glycogen Storage Diseases
AMYOPLASIA, CONGENITA See: Arthrogryposis Multiplex Congenita ANAL ATRESIA See: Anorectal Malformations ANAL STENOSIS See: Anorectal Malformations ANDERSEN DISEASE See: Glycogen Storage Diseases ANDERSON-FABRY DISEASE See: Fabry Disease ANDERSON-WARBURG SYNDROME See: Norrie Disease ANEMIA, APLASTIC See: Anemia, Fanconi; Bone Marrow Transplant Aplastic Anemia and hyelodysplasia Association of Canada 22 Aikenhead Rd.
org 1,2,3,4,7,9 AMSTERAM DWARF SYNDROME OF DE LANGE See: Cornelia de Lange Syndrome AMYLO-1, 6-GLUCOSIDASE DEFICIENCY See: Glycogen Storage Diseases; Muscular Dystrophy AMYLOPECTINOSIS See: Glycogen Storage Diseases
AMYOPLASIA, CONGENITA See: Arthrogryposis Multiplex Congenita ANAL ATRESIA See: Anorectal Malformations ANAL STENOSIS See: Anorectal Malformations ANDERSEN DISEASE See: Glycogen Storage Diseases ANDERSON-FABRY DISEASE See: Fabry Disease ANDERSON-WARBURG SYNDROME See: Norrie Disease ANEMIA, APLASTIC See: Anemia, Fanconi; Bone Marrow Transplant Aplastic Anemia Association of Canada 22 Aikenhead Rd.
Malvern, NY 11565 (516) 887-3600 (516) 887-3667 (fax) 1,2,3,4,7,9 AMSTERDAM DWARF SYNDROME OF DE LANGE See: Cornelia de Lange Syndrome AMYLO-1, 6-GLUCOSIDASE DEFICIENCY See: Glycogen Storage Diseases; Muscular Dystrophy AMYLOPECTINOSIS See: Glycogen Storage Diseases
AMYOPLASIA, CONGENITA See: Arthrogryposis Multiplex Congenita ANAL ATRESIA See: Anorectal Malformations ANAL STENOSIS See: Anorectal Malformations ANATHALMIA International Children's Anathalmia Network Genetics: Albert Einstein Medical Center 5501 Old York Rd.
