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4q25 proximal deletion syndrome

MedGen UID:
1814447
Concept ID:
C5680087
Disease or Syndrome
Synonyms: Proximal del(4)(q25); proximal del(4)(q25); Proximal monosomy 4q25; proximal monosomy 4q25
SNOMED CT: Proximal monosomy 4q25 (1251452003); 4q25 proximal deletion syndrome (1251452003)
 
Monarch Initiative: MONDO:0044717
Orphanet: ORPHA502437

Definition

A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth and mild hand deformities such as bilateral short fifth metacarpals and short hands. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV4q25 proximal deletion syndrome

Recent clinical studies

Etiology

Flomen RH, Gorman PA, Vatcheva R, Groet J, Barisić I, Ligutić I, Sheer D, Nizetić D
J Med Genet 1997 Mar;34(3):191-5. doi: 10.1136/jmg.34.3.191. PMID: 9132488Free PMC Article

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