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DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion

MedGen UID:
1681325
Concept ID:
C5190804
Disease or Syndrome
Synonym: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
SNOMED CT: Monosomy 10p11.21p12.31 (783061008); Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (783061008); 10p12p11 microdeletion syndrome (783061008); Deletion 10p11.21p12.31 (783061008)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0017283
Orphanet: ORPHA284169

Definition

A rare genetic syndromic intellectual disability characterised by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behaviour (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Toledo-Gotor C, García-Muro C, García-Oguiza A, Poch-Olivé ML, Ruiz-Del Prado MY, Domínguez-Garrido E
Mol Genet Genomic Med 2022 May;10(5):e1910. Epub 2022 Mar 10 doi: 10.1002/mgg3.1910. PMID: 35266333Free PMC Article

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