Linear nevus sebaceus syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ORGANOID NEVUS PHAKOMATOSIS
SEBACEOUS NEVUS SYNDROME, LINEAR
SFM SYNDROME
LINEAR SEBACEOUS NEVUS SYNDROME
JADASSOHN NEVUS PHAKOMATOSIS
EPIDERMAL NEVUS SYNDROME, FORMERLY
SFM
JNP
Organoid nevus syndrome
Schimmelpenning syndrome
Solomon syndrome
nevus sebaceus of jadassohn
Nevus sebaceus syndrome
Number of Symptoms 81
OrphanetNr: 2612
OMIM Id: 163200
ICD-10: Q85.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Bulbar conjunctival dermoid or conjunctival dermolipoma
 -Rare eye disease
 -Rare genetic disease
Genetic skin tumor
 -Rare genetic disease
Malformation syndrome with hamartosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Palpebral nevus
 -Rare eye disease
 -Rare genetic disease
Rare nevus
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000085) Horseshoe kidney 39 / 7739
2
 (HPO:0003109) Hyperphosphaturia rare [HPO:skoehler] 18 / 7739
3
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
4
 (HPO:0009720) Adenoma sebaceum Very frequent [Orphanet] 12 / 7739
5
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
6
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
7
 (HPO:0006482) Abnormality of dental morphology 81 / 7739
8
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
9
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
10
 (HPO:0011073) Abnormality of dental color 24 / 7739
11
 (HPO:0000267) Cranial asymmetry 6 / 7739
12
 (HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
13
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
14
 (HPO:0000478) Abnormality of the eye Frequent [Orphanet] 126 / 7739
15
 (HPO:0000597) Ophthalmoparesis 71 / 7739
16
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
17
 (HPO:0000589) Coloboma 47 / 7739
18
 (HPO:0000602) Ophthalmoplegia rare [HPO:skoehler] 56 / 7739
19
 (HPO:0007957) Corneal opacity rare [HPO:skoehler] 84 / 7739
20
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
21
 (HPO:0000612) Iris coloboma Very frequent [Orphanet] 116 / 7739
22
 (HPO:0000544) External ophthalmoplegia 40 / 7739
23
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
24
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
25
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
26
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
27
 (HPO:0001249) Intellectual disability 1089 / 7739
28
 (HPO:0000826) Precocious puberty rare [HPO:skoehler] 42 / 7739
29
 (HPO:0100000) Early onset of sexual maturation 9 / 7739
30
 (HPO:0002751) Kyphoscoliosis 131 / 7739
31
 (HPO:0001167) Abnormality of finger 29 / 7739
32
 (HPO:0002757) Recurrent fractures 47 / 7739
33
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
34
 (HPO:0000938) Osteopenia 138 / 7739
35
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
36
 (HPO:0001780) Abnormality of toe 5 / 7739
37
 (HPO:0002816) Genu recurvatum Very frequent [Orphanet] 30 / 7739
38
 (HPO:0004912) Hypophosphatemic rickets 13 / 7739
39
 (HPO:0100555) Asymmetric growth Very frequent [Orphanet] 25 / 7739
40
 (HPO:0001510) Growth delay 295 / 7739
41
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
42
 (HPO:0004322) Short stature 1232 / 7739
43
 (HPO:0001548) Overgrowth 27 / 7739
44
 (HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
45
 (HPO:0001048) Cavernous hemangioma Very frequent [Orphanet] 28 / 7739
46
 (HPO:0010815) Nevus sebaceous 2 / 7739
47
 (HPO:0001028) Hemangioma 23 / 7739
48
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
49
 (HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
50
 (HPO:0001596) Alopecia 162 / 7739
51
 (HPO:0002671) Basal cell carcinoma 18 / 7739
52
 (HPO:0008064) Ichthyosis 108 / 7739
53
 (HPO:0001010) Hypopigmentation of the skin 46 / 7739
54
 (HPO:0001680) Coarctation of aorta 57 / 7739
55
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
56
 (OMIM) Alopecia within lesion 1 / 7739
57
 (OMIM) Trichoblastoma 1 / 7739
58
 (OMIM) Coloboma of eyelids, iris, and choroid 1 / 7739
59
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
60
 (HPO:0002119) Ventriculomegaly Very frequent [Orphanet] 253 / 7739
61
 (OMIM) Hypophosphatemic vitamin D-resistant rickets (in some) 1 / 7739
62
 (OMIM) Neurologic abnormalities in about 7% 1 / 7739
63
 (OMIM) Linear nevus sebaceous, often in midfacial area 1 / 7739
64
 (HPO:0001442) Somatic mosaicism 7 / 7739
65
 (HPO:0003745) Sporadic 131 / 7739
66
 (OMIM) Central giant cell granuloma 1 / 7739
67
 (OMIM) Lesions follow the lines of Blaschko 1 / 7739
68
 (OMIM) Phosphaturia may disappear after a long period of time 1 / 7739
69
 (OMIM) Finger abnormalities 1 / 7739
70
 (OMIM) Syringocystadenoma papilliferum 1 / 7739
71
 (HPO:0002132) Porencephaly Frequent [Orphanet] 18 / 7739
72
 (OMIM) Pigmented, malformed teeth 1 / 7739
73
 (OMIM) Ichthyosis hystrix 2 / 7739
74
 (OMIM) Nevus unius lateris 1 / 7739
75
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
76
 (HPO:0007206) Hemimegalencephaly 2 / 7739
77
 (OMIM) Toe abnormalities 1 / 7739
78
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
79
 (MedDRA:10070918) Bone deformity 2 / 7739
80
 (OMIM) Lid lipodermoid 1 / 7739
81
 (OMIM) Asymmetric overgrowth 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and ...
Clinical Description OMIM Feuerstein and Mims (1962) described 2 unrelated patients with linear nevus sebaceous of the midline of the face associated with epilepsy, focal EEG abnormalities, and mental retardation. Mehregan and Pinkus (1965) outlined the natural history of organoid nevi. ...
Molecular genetics OMIM Groesser et al. (2012) analyzed tissue from 2 unrelated patients with Schimmelpenning-Feuerstein-Mims syndrome for RAS hotspot mutations. One patient (Zutt et al., 2003) carried a mutation in the HRAS gene (G13R; 190020.0017) and the other patient (Rijntjes-Jacobs et ...