Ichthyosis follicularis - alopecia - photophobia

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
Ichthyosis follicularis - atrichia - photophobia
IFAP syndrome
Number of Symptoms 108
OrphanetNr: 2273
OMIM Id: 308205
ICD-10:
UMLs: C1839988
MeSH: C536085
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 40 cases [Orphanet]
Inheritance: Autosomal dominant
X-linked recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alopecia
 -Rare genetic disease
 -Rare skin disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked ichthyosis syndrome
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
2
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
3
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
4
 (HPO:0000003) Multicystic kidney dysplasia 17 / 7739
5
 (HPO:0000110) Renal dysplasia 44 / 7739
6
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
7
 (HPO:0000028) Cryptorchidism 347 / 7739
8
 (HPO:0000561) Absent eyelashes 18 / 7739
9
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
10
 (HPO:0000175) Cleft palate Occasional [HPO:probinson] 349 / 7739
11
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
12
 (HPO:0002223) Absent eyebrow 21 / 7739
13
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
14
 (HPO:0100825) Cheilitis Occasional [Orphanet] 20 / 7739
15
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
16
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
17
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
18
 (HPO:0100533) Inflammatory abnormality of the eye Occasional [Orphanet] 70 / 7739
19
 (HPO:0007957) Corneal opacity 84 / 7739
20
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
21
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
22
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
23
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
24
 (HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
25
 (HPO:0000495) Recurrent corneal erosions 20 / 7739
26
 (HPO:0200020) Corneal erosion 12 / 7739
27
 (HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
28
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
29
 (HPO:0000365) Hearing impairment Occasional [HPO:probinson] 539 / 7739
30
 (HPO:0001249) Intellectual disability 1089 / 7739
31
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
32
 (HPO:0001263) Global developmental delay 853 / 7739
33
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] Occasional [HPO:probinson] 78 / 7739
34
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
35
 (HPO:0002999) Patellar dislocation 46 / 7739
36
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
37
 (HPO:0012095) Multiple joint dislocation 24 / 7739
38
 (HPO:0003994) Dislocated wrist 24 / 7739
39
 (HPO:0001155) Abnormality of the hand Occasional [Orphanet] 54 / 7739
40
 (HPO:0005254) Unilateral chest hypoplasia 2 / 7739
41
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
42
 (HPO:0000926) Platyspondyly Occasional [Orphanet] 150 / 7739
43
 (HPO:0001162) Postaxial hand polydactyly Rare [HPO:probinson] 119 / 7739
44
 (HPO:0003834) Shoulder dislocation 28 / 7739
45
 (HPO:0002650) Scoliosis 705 / 7739
46
 (HPO:0002827) Hip dislocation Rare [HPO:probinson] 94 / 7739
47
 (HPO:0009380) Aplasia of the fingers Occasional [Orphanet] 51 / 7739
48
 (HPO:0003179) Protrusio acetabuli 37 / 7739
49
 (HPO:0001373) Joint dislocation 59 / 7739
50
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
51
 (HPO:0100259) Postaxial polydactyly 85 / 7739
52
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
53
 (HPO:0000772) Abnormality of the ribs 146 / 7739
54
 (HPO:0003042) Elbow dislocation 89 / 7739
55
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
56
 (HPO:0001562) Oligohydramnios 75 / 7739
57
 (HPO:0000023) Inguinal hernia 181 / 7739
58
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
59
 (HPO:0001537) Umbilical hernia 206 / 7739
60
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
61
 (HPO:0001510) Growth delay 295 / 7739
62
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
63
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
64
 (HPO:0008404) Nail dystrophy 89 / 7739
65
 (HPO:0001019) Erythroderma 24 / 7739
66
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
67
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
68
 (HPO:0002164) Nail dysplasia 82 / 7739
69
 (HPO:0001595) Abnormality of the hair Very frequent [Orphanet] 89 / 7739
70
 (HPO:0000964) Eczema Frequent [Orphanet] 81 / 7739
71
 (HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
72
 (HPO:0000958) Dry skin 152 / 7739
73
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
74
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
75
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
76
 (HPO:0000966) Hypohidrosis 41 / 7739
77
 (HPO:0007502) Follicular hyperkeratosis 12 / 7739
78
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
79
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
80
 (HPO:0001025) Urticaria Occasional [Orphanet] 73 / 7739
81
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
82
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
83
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
84
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
85
 (HPO:0003577) Congenital onset 133 / 7739
86
 (HPO:0012444) Brain atrophy 24 / 7739
87
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
88
 (OMIM) Vascularizing keratitis 2 / 7739
89
 (OMIM) Lack of eyebrows and eyelashes 2 / 7739
90
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
91
 (OMIM) Reduced numbers of hair follicles 2 / 7739
92
 (MedDRA:10072731) White matter lesion 7 / 7739
93
 (OMIM) Deformed temporal lobes 2 / 7739
94
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
95
 (OMIM) Dry, scaly skin 3 / 7739
96
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
97
 (HPO:0003828) Variable expressivity 130 / 7739
98
 (HPO:0002119) Ventriculomegaly 253 / 7739
99
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
100
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
101
 (HPO:0040189) Scaling skin 6 / 7739
102
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
103
 (HPO:0002542) Olivopontocerebellar atrophy 11 / 7739
104
 (OMIM) Neurologic involvement (in some patients) 2 / 7739
105
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
106
 (OMIM) Alopecia, generalized 2 / 7739
107
 (OMIM) Desquamation 2 / 7739
108
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 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 ...