BRESEK syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA
BRESHECK syndrome
Number of Symptoms 76
OrphanetNr: 85284
OMIM Id: 308205
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Very frequent [Orphanet] 127 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000003) Multicystic kidney dysplasia 17 / 7739
4
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
5
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
6
 (HPO:0000110) Renal dysplasia 44 / 7739
7
 (HPO:0000076) Vesicoureteral reflux Frequent [Orphanet] 94 / 7739
8
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
9
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
10
 (HPO:0000079) Abnormality of the urinary system Very frequent [Orphanet] 88 / 7739
11
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
12
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
13
 (HPO:0000175) Cleft palate 349 / 7739
14
 (HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
15
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
16
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
17
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
18
 (HPO:0007957) Corneal opacity 84 / 7739
19
 (HPO:0000613) Photophobia 158 / 7739
20
 (HPO:0000495) Recurrent corneal erosions 20 / 7739
21
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
22
 (HPO:0200020) Corneal erosion 12 / 7739
23
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
24
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
25
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
26
 (HPO:0001250) Seizures 1245 / 7739
27
 (HPO:0001249) Intellectual disability 1089 / 7739
28
 (HPO:0002251) Aganglionic megacolon Frequent [Orphanet] 78 / 7739
29
 (HPO:0001263) Global developmental delay 853 / 7739
30
 (HPO:0002827) Hip dislocation 94 / 7739
31
 (HPO:0000772) Abnormality of the ribs 146 / 7739
32
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
33
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
34
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 119 / 7739
35
 (HPO:0002999) Patellar dislocation 46 / 7739
36
 (HPO:0001373) Joint dislocation 59 / 7739
37
 (HPO:0003042) Elbow dislocation 89 / 7739
38
 (HPO:0005254) Unilateral chest hypoplasia 2 / 7739
39
 (HPO:0012095) Multiple joint dislocation 24 / 7739
40
 (HPO:0100259) Postaxial polydactyly 85 / 7739
41
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
42
 (HPO:0003994) Dislocated wrist 24 / 7739
43
 (HPO:0003834) Shoulder dislocation 28 / 7739
44
 (HPO:0003179) Protrusio acetabuli 37 / 7739
45
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
46
 (HPO:0001562) Oligohydramnios 75 / 7739
47
 (HPO:0001537) Umbilical hernia 206 / 7739
48
 (HPO:0000023) Inguinal hernia 181 / 7739
49
 (HPO:0001510) Growth delay 295 / 7739
50
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
51
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
52
 (HPO:0001019) Erythroderma 24 / 7739
53
 (HPO:0008404) Nail dystrophy 89 / 7739
54
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
55
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
56
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
57
 (HPO:0007502) Follicular hyperkeratosis 12 / 7739
58
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
59
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
60
 (MedDRA:10072731) White matter lesion 7 / 7739
61
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
62
 (OMIM) Neurologic involvement (in some patients) 2 / 7739
63
 (HPO:0002119) Ventriculomegaly 253 / 7739
64
 (OMIM) Vascularizing keratitis 2 / 7739
65
 (OMIM) Alopecia, generalized 2 / 7739
66
 (OMIM) Lack of eyebrows and eyelashes 2 / 7739
67
 (OMIM) Deformed temporal lobes 2 / 7739
68
 (HPO:0002542) Olivopontocerebellar atrophy 11 / 7739
69
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
70
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
71
 (OMIM) Desquamation 2 / 7739
72
 (OMIM) Dry, scaly skin 3 / 7739
73
 (OMIM) Reduced numbers of hair follicles 2 / 7739
74
 (HPO:0012444) Brain atrophy 24 / 7739
75
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
76
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal ...
Diagnosis OMIM Keyvani et al. (1998) concluded that when stringent diagnostic criteria were applied, only 10 patients from 8 families with the IFAP syndrome had been reported.

Happle (2004) suggested that there may be as many as 3 ...
Clinical Description OMIM - Early Reports

The syndrome of ichthyosis follicularis with atrichia and photophobia (IFAP syndrome) was first described by MacLeod (1909), who reported a family in which 3 of 5 boys were affected. He was struck by ...
Molecular genetics OMIM In affected members of 3 multigeneration pedigrees segregating IFAP syndrome as well as in 2 unrelated affected patients, all of European descent, Oeffner et al. (2009) identified mutations in the MBTPS2 gene. One of the unrelated patients was ...