Presentation
Disorder Synonym(s): Cassia Stocco dos Santos syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: Q87.8 OMIM: - UMLS: - MeSH: - GARD: 717 MedDRA: - The documents contained in this web site are presented [orpha.net]
SDSS, X-linked intellectual disability Stocco dos Santos type [1] Specialty Medical genetics Symptoms Ocular, muscular and skeletal differences Frequency very rare Stocco dos Santos syndrome is an extremely rare multi-systemic genetic disorder which is present [en.wikipedia.org]
Entire Body System
- Multiple Congenital Anomalies
Homepage Rare diseases Search Search for a rare disease Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome Disease definition A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized [orpha.net]
Eyes
- Aniridia
[…] reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia [orpha.net]
Presentation[edit] People with Stocco dos Santos syndrome often show the following symptoms: dolichocephaly, cranial asymmetry, talipes equinovarus, camptodactyly, muscular hypoplasia, anophthalmia, buffalmos, progressive retinal detachment, aniridia, [en.wikipedia.org]
- Prolapse
[…] consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse [orpha.net]
People with Stocco dos Santos syndrome often show the following symptoms: dolichocephaly, cranial asymmetry, talipes equinovarus, camptodactyly, muscular hypoplasia, anophthalmia, buffalmos, progressive retinal detachment, aniridia, tricuspid valve prolapse [en.wikipedia.org]
Musculoskeletal
- Dolichocephaly
[…] rare disease Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome Disease definition A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly [orpha.net]
Presentation[edit] People with Stocco dos Santos syndrome often show the following symptoms: dolichocephaly, cranial asymmetry, talipes equinovarus, camptodactyly, muscular hypoplasia, anophthalmia, buffalmos, progressive retinal detachment, aniridia, [en.wikipedia.org]
- Cranial Asymmetry
Presentation[edit] People with Stocco dos Santos syndrome often show the following symptoms: dolichocephaly, cranial asymmetry, talipes equinovarus, camptodactyly, muscular hypoplasia, anophthalmia, buffalmos, progressive retinal detachment, aniridia, [en.wikipedia.org]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Etiology
[…] mitral and tricuspid insufficiency,[2] hyperactivity, intellectual disability, low birth weight and short stature.[3] Causes[edit] This condition is thought to be caused by mutations in chromosome Xp11.22, and thought to be X-linked recessive.[4][5][6] Etiology [en.wikipedia.org]
Pathophysiology
Cassia Stocco dos Santos syndrome is autosomal recessive disease with characteristic features of anophthalmia, megalocornea, cardiopathy and skeletal anomalies with the age of onset of infancy and neonates and the prevalence rate of <1 / 1 000 000.[1] Pathophysiology [wikidoc.org]