Arachnodactyly-intellectual disability-dysmorphism syndrome

MedGen UID:: 929699
•Concept ID:: C4304030
•: Disease or Syndrome

Synonyms:	arachnodactyly - intellectual disability - dysmorphism; Arachnodactyly and intellectual disability with facial dysmorphism syndrome; arachnodactyly-intellectual disability-dysmorphism syndrome; De Die, Smulders, Vles, Fryns syndrome; De Die-Smulders-Vles-Fryns syndrome
SNOMED CT:	Arachnodactyly and intellectual disability with facial dysmorphism syndrome (720502000); De Die, Smulders, Vles, Fryns syndrome (720502000)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0015235
Orphanet:	ORPHA1130

Definition

This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVArachnodactyly-intellectual disability-dysmorphism syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Arachnodactyly-intellectual disability-dysmorphism syndrome

Recent clinical studies

Etiology

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.

Aminzadeh M, Galehdari H, Shariati G, Malekpour N, Ghandil P
J Pediatr (Rio J) 2020 Jan-Feb;96(1):60-65. Epub 2018 Aug 4 doi: 10.1016/j.jped.2018.07.005. PMID: 30080992 Free PMC Article

See all (1)

Diagnosis

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome.

Aminzadeh M, Galehdari H, Shariati G, Malekpour N, Ghandil P
J Pediatr (Rio J) 2020 Jan-Feb;96(1):60-65. Epub 2018 Aug 4 doi: 10.1016/j.jped.2018.07.005. PMID: 30080992 Free PMC Article

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Arachnodactyly-intellectual disability-dysmorphism syndrome

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

Recent activity