Blepharophimosis-intellectual deficit syndrome, Verloes type

General Information (adopted from Orphanet):

Synonyms, Signs: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE
Blepharophimosis-intellectual deficit syndrome type V
BMRS, Verloes type
BMRS type V
Number of Symptoms 45
OrphanetNr: 293725
OMIM Id: 604314
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Blepharophimosis-intellectual deficit syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000049) Shawl scrotum 31 / 7739
2
 (HPO:0000047) Hypospadias 250 / 7739
3
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
4
 (HPO:0000243) Trigonocephaly 40 / 7739
5
 (HPO:0000527) Long eyelashes 46 / 7739
6
 (HPO:0000218) High palate 356 / 7739
7
 (HPO:0000269) Prominent occiput 43 / 7739
8
 (HPO:0000581) Blepharophimosis 197 / 7739
9
 (HPO:0000294) Low anterior hairline 52 / 7739
10
 (HPO:0000160) Narrow mouth 188 / 7739
11
 (HPO:0000319) Smooth philtrum 72 / 7739
12
 (HPO:0000343) Long philtrum 262 / 7739
13
 (HPO:0005989) Redundant neck skin 40 / 7739
14
 (HPO:0000272) Malar flattening 277 / 7739
15
 (HPO:0000189) Narrow palate 45 / 7739
16
 (HPO:0002162) Low posterior hairline 88 / 7739
17
 (HPO:0000414) Bulbous nose 63 / 7739
18
 (HPO:0011800) Midface retrusion 221 / 7739
19
 (HPO:0000506) Telecanthus 156 / 7739
20
 (HPO:0000996) Facial capillary hemangioma 4 / 7739
21
 (HPO:0000474) Thickened nuchal skin fold 10 / 7739
22
 (HPO:0000508) Ptosis 459 / 7739
23
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
24
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
25
 (HPO:0000369) Low-set ears 372 / 7739
26
 (HPO:0000403) Recurrent otitis media 61 / 7739
27
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
28
 (HPO:0001249) Intellectual disability 1089 / 7739
29
 (HPO:0002558) Supernumerary nipple 40 / 7739
30
 (HPO:0009623) Proximal placement of thumb 50 / 7739
31
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
32
 (HPO:0001762) Talipes equinovarus 309 / 7739
33
 (HPO:0011968) Feeding difficulties 240 / 7739
34
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
35
 (HPO:0001810) Dystrophic toenail 9 / 7739
36
 (HPO:0001601) Laryngomalacia 61 / 7739
37
 (HPO:0010547) Muscle flaccidity 466 / 7739
38
 (HPO:0001252) Muscular hypotonia 990 / 7739
39
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
40
 (HPO:0001324) Muscle weakness 859 / 7739
41
 (OMIM) Long, flat philtrum 5 / 7739
42
 (OMIM) Vertically inserted eyelashes 1 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (OMIM) Laterally displaced hair whorl 1 / 7739
45
 (OMIM) Ridged metopic suture 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nowaczyk and Sutcliffe (1999) described 2 sibs, a 2.5-year-old girl and a 10-month-old boy, with an apparently novel combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set ...