VERHEIJ SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: VRJS
CHROMOSOME 8q24.3 DELETION SYNDROME
Number of Symptoms 25
OrphanetNr:
OMIM Id: 615583
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000107) Renal cyst 126 / 7739
2
(HPO:0000104) Renal agenesis 68 / 7739
3
(HPO:0000089) Renal hypoplasia 78 / 7739
4
(HPO:0000341) Narrow forehead 96 / 7739
5
(HPO:0003196) Short nose 264 / 7739
6
(HPO:0000470) Short neck 345 / 7739
7
(HPO:0000343) Long philtrum 262 / 7739
8
(HPO:0000252) Microcephaly 832 / 7739
9
(HPO:0000431) Wide nasal bridge 290 / 7739
10
(HPO:0000219) Thin upper lip vermilion 112 / 7739
11
(HPO:0000589) Coloboma 47 / 7739
12
(HPO:0001263) Global developmental delay 853 / 7739
13
(HPO:0002650) Scoliosis 705 / 7739
14
(HPO:0009237) Short 5th finger 16 / 7739
15
(HPO:0002827) Hip dislocation 94 / 7739
16
(HPO:0002948) Vertebral fusion 28 / 7739
17
(HPO:0002937) Hemivertebrae 41 / 7739
18
(HPO:0011968) Feeding difficulties 240 / 7739
19
(HPO:0004322) Short stature 1232 / 7739
20
(HPO:0001671) Abnormality of the cardiac septa 55 / 7739
21
(HPO:0002059) Cerebral atrophy 171 / 7739
22
(HPO:0030084) Clinodactyly 90 / 7739
23
(HPO:0003577) Congenital onset 133 / 7739
24
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
25
(HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber ...
Clinical Description OMIM Verheij et al. (2009) reported 2 unrelated Dutch children born with multiple and somewhat overlapping congenital anomalies associated with large heterozygous de novo deletions of chromosome 8q24. A 20-month-old boy had delayed psychomotor development, poor growth, seizures, ventricular ...