SOTOS2
MCID: STS007
MIFTS: 34
|
Sotos Syndrome 2 (SOTOS2)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
MalaCards integrated aliases for Sotos Syndrome 2:
Characteristics:Orphanet epidemiological data:58
malan overgrowth syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases Eye diseases
ICD10:
33
Orphanet: 58
![]() |
OMIM :
56
Sotos syndrome-2 (SOTOS2) is clinically characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly, with age. Impaired intellectual development and behavior anomalies are present (summary by Martinez et al., 2015).
For a discussion of genetic heterogeneity of Sotos syndrome, see 117550. (614753)
MalaCards based summary : Sotos Syndrome 2, also known as malan syndrome, is related to marshall-smith syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Sotos Syndrome 2 is NFIX (Nuclear Factor I X). Affiliated tissues include bone and eye, and related phenotypes are accelerated skeletal maturation and macrocephaly UniProtKB/Swiss-Prot : 73 Sotos syndrome 2: A form of Sotos syndrome, a childhood overgrowth syndrome characterized by prenatal and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology. SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety. |
Human phenotypes related to Sotos Syndrome 2:58 31 (show top 50) (show all 53)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614753 |
Interventional clinical trials:
|
MalaCards organs/tissues related to Sotos Syndrome 2:40
Bone,
Eye
|
Articles related to Sotos Syndrome 2:
|
ClinVar genetic disease variations for Sotos Syndrome 2:6 (show all 31)
UniProtKB/Swiss-Prot genetic disease variations for Sotos Syndrome 2:73
|
Search
GEO
for disease gene expression data for Sotos Syndrome 2.
|
|
|