7 Cases
2307
IVIC syndrome
4 Families
1540
Jackson-Weiss syndrome
200 Cases
2308
Jacobsen syndrome
1.0 BP *
1873
Jalili syndrome
49 Cases
79139
Japanese encephalitis
0.65 I *
313795
Jawad syndrome
4 Cases
90647
Jervell and Lange-Nielsen
syndrome
0.3 P
474
Jeune syndrome
1.4 BP *
324999
JMP syndrome
3 Cases
2315
Johanson-Blizzard syndrome
0.4 BP *
475
Joubert syndrome
1.125 BP
140874
Joubert syndrome and related
disorders
1.1 BP
1454
Joubert syndrome with hepatic
defect
8 Cases
397715
Joubert syndrome with Jeune
asphyxiating thoracic dystrophy
8 Cases
2318
Joubert syndrome with
oculorenal defect
17 Cases
2754
Joubert syndrome with
orofaciodigital defect
2 Families
2319
Juberg-Hayward syndrome
10 Cases
93972
Juberg-Marsidi syndrome
16 Cases
79405
Junctional epidermolysis
bullosa inversa
9 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
79404
Junctional epidermolysis
bullosa, Herlitz type
0.17 BP
79403
Junctional epidermolysis
bullosa-pyloric atresia
syndrome
100 Cases
2321
Jung-Wolff-Back-Stahl
syndrome
2 Cases
1941
Juvenile absence epilepsy
7.5 I *
247794
Juvenile cataract-microcornea-
renal glucosuria syndrome
12 Cases
93672
Juvenile dermatomyositis
0.295 I
248111
Juvenile Huntington disease
0.6 P *
248111
Juvenile Huntington disease
0.04 I *
2028
Juvenile hyaline fibromatosis
50 Cases
92
Juvenile idiopathic arthritis
1.5 I *
86834
Juvenile myelomonocytic
leukemia
0.1 P *
2801
Juvenile Paget disease
50 Cases
79076
Juvenile polyposis of infancy
11 Cases
2929
Juvenile polyposis syndrome
3.85 I *
247604
Juvenile primary lateral
sclerosis
4 Cases
85436
Juvenile psoriatic arthritis
4.2 P *
85408
Juvenile rheumatoid factor-
negative polyarthritis
8.0 P *
85435
Juvenile rheumatoid factor-
positive polyarthritis
4.2 P *
26137
Juvenile temporal arteritis
20 Cases
445062
Juvenile-onset diabetes
mellitus-central and peripheral
neurodegeneration syndrome
5 Cases
2322
Kabuki syndrome
3.1 P *
2324
Kaler-Garrity-Stern syndrome
2 Cases
478
Kallmann syndrome
3.75 P *
2326
Kallmann syndrome-heart
disease syndrome
8 Cases
33276
Kaposi sarcoma
0.34 I *
2328
Kapur-Toriello syndrome
6 Cases
2329
Karsch-Neugebauer syndrome
10 Cases
401996
Karyomegalic interstitial
nephritis
12 Families
2330
Kasabach-Merritt syndrome
300 Cases
2332
KBG syndrome
59 Cases
439218
KCNQ2-related epileptic
encephalopathy
11 Families
480
Kearns-Sayre syndrome
2.0 P *
2333
Kenny-Caffey syndrome
65 Cases
494
Keratoderma hereditarium
mutilans
50 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
38
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
79395
Keratoderma hereditarium
mutilans with ichthyosis
50 Cases
2339
Keratosis follicularis-dwarfism-
cerebral atrophy syndrome
6 Cases
86919
Keratosis palmaris et plantaris-
clinodactyly syndrome
20 Cases
293807
Ketamine-induced biliary
dilatation
2 Cases
438075
Ketoacidosis due to
monocarboxylate transporter-1
deficiency
9 Cases
85202
Keutel syndrome
30 Cases
477
KID syndrome
100 Cases
50918
Kikuchi-Fujimoto disease
1052 Cases
482
Kimura disease
300 Cases
2908
Kindler syndrome
250 Cases
261494
Kleefstra syndrome
114 Cases
96147
Kleefstra syndrome due to
9q34 microdeletion
86 Cases
261652
Kleefstra syndrome due to a
point mutation
23 Cases
447974
Klippel-Feil anomaly-myopathy-
facial dysmorphism syndrome
2 Cases
90308
Klippel-Trénaunay syndrome
0.007 P *
96169
Koolen-De Vries syndrome
4.0 P *
363965
Koolen-De Vries syndrome due
to a point mutation
4 Cases
99749
Kostmann syndrome
45 Cases
2351
Kousseff syndrome
8 Cases
2352
Kozlowski-Brown-Hardwick
syndrome
2 Cases
487
Krabbe disease
1.0 P *
487
Krabbe disease
0.7 BP
89838
KRT14-related epidermolysis
bullosa simplex
19 Cases
306674
Kufor-Rakeb syndrome
16 Cases
454745
Kuru
2700 Cases
79314
L-2-hydroxyglutaric aciduria
140 Cases
35704
L-Arginine:glycine
amidinotransferase deficiency
9 Cases
440731
L-ferritin deficiency
2 Cases
2363
Lacrimoauriculodentodigital
syndrome
100 Cases
501
Lafora disease
300 Cases
306507
LAMB2-related infantile-onset
nephrotic syndrome
14 Cases
1296
Lambert syndrome
4 Cases
43393
Lambert-Eaton myasthenic
syndrome
0.35 P
313
Lamellar ichthyosis
0.55 P *
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
137871
Laminopathy type Decaudain-
Vigouroux
9 Cases
2632
Langer mesomelic dysplasia
50 Cases
502
Langer-Giedion syndrome
100 Cases
389
Langerhans cell histiocytosis
1.5 P *
626
Large congenital melanocytic
nevus
2.75 P *
633
Laron syndrome
0.3 P *
220465
Laron syndrome with
immunodeficiency
10 Cases
2375
Laryngeal abductor paralysis-
intellectual disability syndrome
20 Cases
2004
Laryngo-tracheo-esophageal
cleft
7.5 BP *
93940
Laryngo-tracheo-esophageal
cleft type 3
30 Cases
93941
Laryngo-tracheo-esophageal
cleft type 4
20 Cases
228227
Late-onset focal dermal
elastosis
5 Cases
79406
Late-onset junctional
epidermolysis bullosa
37 Cases
231556
Late-onset localized junctional
epidermolysis bullosa-
intellectual disability syndrome
2 Cases
2789
Lateral meningocele syndrome
14 Cases
46059
Lathosterolosis
4 Cases
650
LCAT deficiency
125 Cases
330015
Lead poisoning
2.3 P *
65
Leber congenital amaurosis
2.5 P
65
Leber congenital amaurosis
2.5 BP
104
Leber hereditary optic
neuropathy
4.3 P
99718
Leber plus disease
0.04 P *
549
Legionellosis
0.97 I *
137605
Legius syndrome
2.2 BP
506
Leigh syndrome
2.0 P *
506
Leigh syndrome
2.8 BP *
507
Leishmaniasis
0.1 P *
507
Leishmaniasis
25.0 I
140936
Lelis syndrome
8 Cases
137839
Lemierre syndrome
10.0 I *
2382
Lennox-Gastaut syndrome
15.0 P *
2382
Lennox-Gastaut syndrome
0.1 I *
2658
Lenz-Majewski hyperostotic
dwarfism
10 Cases
548
Leprosy
3.7 I
509
Leptospirosis
0.11 I *
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
39
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
510
Lesch-Nyhan syndrome
0.34 BP *
158687
Lethal acantholytic
epidermolysis bullosa
4 Cases
314718
Lethal arteriopathy syndrome
due to fibulin-4 deficiency
22 Cases
1187
Lethal ataxia with deafness and
optic atrophy
2 Families
1421
Lethal chondrodysplasia, Seller
type
1 Case
137776
Lethal congenital contracture
syndrome type 2
1 Family
330050
Lethal encephalopathy due to
mitochondrial and peroxisomal
fission defect
1 Case
1972
Lethal faciocardiomelic
dysplasia
3 Cases
444069
Lethal fetal brain
malformation-duodenal atresia-
bilateral renal hypoplasia
syndrome
4 Cases
439897
Lethal fetal
cerebrorenogenitourinary
agenesis/hypoplasia syndrome
2 Cases
1046
Lethal hemolytic anemia-
genital anomalies syndrome
2 Cases
2347
Lethal Kniest-like dysplasia
2 Cases
2371
Lethal Larsen-like syndrome
10 Cases
33108
Lethal multiple pterygium
syndrome
28 Families
435845
Lethal neonatal spasticity-
epileptic encephalopathy
syndrome
8 Cases
293925
Lethal occipital encephalocele-
skeletal dysplasia syndrome
4 Cases
2736
Lethal omphalocele-cleft palate
syndrome
3 Cases
1832
Lethal osteosclerotic bone
dysplasia
40 Cases
210144
Lethal polymalformative
syndrome, Boissel type
8 Cases
1423
Lethal recessive
chondrodysplasia
4 Cases
99870
Letterer-Siwe disease
0.2 P *
2968
Leukocyte adhesion deficiency
350 Cases
99842
Leukocyte adhesion deficiency
type I
0.1 P *
99843
Leukocyte adhesion deficiency
type II
10 Cases
99844
Leukocyte adhesion deficiency
type III
17 Cases
139444
Leukoencephalopathy with
bilateral anterior temporal lobe
cysts
29 Cases
137898
Leukoencephalopathy with
brain stem and spinal cord
involvement-high lactate
syndrome
127 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
363540
Leukoencephalopathy with
mild cerebellar ataxia and white
matter edema
6 Cases
137639
Leukoencephalopathy-ataxia-
hypodontia-hypomyelination
syndrome
8 Cases
163684
Leukoencephalopathy-
dystonia-motor neuropathy
syndrome
2 Cases
83629
Leukoencephalopathy-
metaphyseal chondrodysplasia
syndrome
4 Cases
2386
Leukoencephalopathy-
palmoplantar keratoderma
syndrome
4 Cases
314051
Leukoencephalopathy-
thalamus and brainstem
anomalies-high lactate
syndrome
14 Cases
210133
Leukonychia totalis-acanthosis-
nigricans-like lesions-abnormal
hair syndrome
11 Cases
48162
Lewis-Sumner syndrome
0.9 P *
65285
Lhermitte-Duclos disease
220 Cases
524
Li-Fraumeni syndrome
6.0 P
525
Lichen planopilaris
300 Cases
254478
Lichen planus pemphigoides
100 Cases
2390
Lichstenstein syndrome
2 Cases
526
Liddle syndrome
80 Cases
99812
LIG4 syndrome
27 Cases
97231
Ligneous conjunctivitis
200 Cases
263
Limb-girdle muscular dystrophy
2.32 P
445110
Limb-girdle muscular dystrophy
due to POMK deficiency
2 Cases
69085
Limb-mammary syndrome
2 Families
171673
Limbal stem cell deficiency
3.0 P *
329341
Limbic encephalitis with DPP6
antibodies
4 Cases
220407
Limited systemic sclerosis
200 Cases
140933
Linear atrophoderma of Moulin
30 Cases
228236
Linear focal dermal elastosis
30 Cases
2612
Linear nevus sebaceus
syndrome
10.0 BP *
435660
LIPE-related familial partial
lipodystrophy
2 Cases
1979
Lipodystrophy due to peptidic
growth factors deficiency
1 Family
50811
Lipodystrophy-intellectual
disability-deafness syndrome
3 Cases
401859
Lipoic acid synthetase
deficiency
3 Cases
530
Lipoid proteinosis
300 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
40
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
69078
Liposarcoma
1.0 I *
401862
Lipoyl transferase 1 deficiency
2 Cases
98955
Lisch epithelial corneal
dystrophy
36 Cases
171680
Lissencephaly due to TUBA1A
mutation
15 Cases
86821
Lissencephaly type 3-familial
fetal akinesia sequence
syndrome
5 Cases
86822
Lissencephaly type 3-
metacarpal bone dysplasia
syndrome
2 Cases
100012
Lissencephaly with cerebellar
hypoplasia type B
50 Cases
100013
Lissencephaly with cerebellar
hypoplasia type C
10 Cases
533
Listeriosis
0.337 I
363618
LMNA-related cardiocutaneous
progeria syndrome
5 Cases
2407
LOC syndrome
50 Cases
93685
Localized Castleman disease
1.0 P
251393
Localized junctional
epidermolysis bullosa, non-
Herlitz type
20 Cases
90398
Localized lichen
myxedematosus with mixed
features of different subtypes
10 Cases
90399
Localized lichen
myxedematosus with
monoclonal gammopathy or
systemic symptoms
5 Cases
2406
Locked-in syndrome
33 Cases
60030
Loeys-Dietz syndrome
52 Families
5
Long chain 3-hydroxyacyl-CoA
dehydrogenase deficiency
8.0 P *
5
Long chain 3-hydroxyacyl-CoA
dehydrogenase deficiency
1.0 BP *
2408
Lowe-Kohn-Cohen syndrome
1 Family
2487
Lower limb deficiency-
hypospadias syndrome
2 Cases
276435
Lower motor neuron syndrome
with late-adult onset
31 Cases
2409
Lowry-MacLean syndrome
3 Cases
1824
Lowry-Wood syndrome
10 Cases
1120
Lung agenesis-heart defect-
thumb anomalies syndrome
9 Cases
137631
Lung fibrosis-
immunodeficiency-46,XX
gonadal dysgenesis syndrome
2 Cases
90283
Lupus erythematosus tumidus
250 Cases
91546
Lyme disease
21.9 I
538
Lymphangioleiomyomatosis
0.15 P
538
Lymphangioleiomyomatosis
0.0135 I
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
86915
Lymphedema-atrial septal
defects-facial changes
syndrome
5 Cases
86914
Lymphedema-cerebral
arteriovenous anomaly
syndrome
5 Cases
275761
Lysosomal acid lipase
deficiency
2.0 P *
397612
Macrocephaly-developmental
delay syndrome
9 Cases
210548
Macrocephaly-intellectual
disability-autism syndrome
40 Cases
457485
Macrocephaly-intellectual
disability-neurodevelopmental
disorder-small thorax syndrome
6 Cases
2427
Macrocephaly-short stature-
paraplegia syndrome
2 Cases
2432
Macrosomia-microphthalmia-
cleft palate syndrome
5 Cases
83619
Macrostomia-preauricular tags-
external ophthalmoplegia
syndrome
9 Cases
91494
Macular coloboma-cleft palate-
hallux valgus syndrome
2 Cases
137867
Madras motor neuron disease
200 Cases
163634
Maffucci syndrome
250 Cases
77297
Majeed syndrome
4 Families
87503
Mal de Meleda
1.0 P
420179
Malan overgrowth syndrome
20 Cases
673
Malaria
3.0 P *
673
Malaria
73.0 I
2234
Male hypergonadotropic
hypogonadism-intellectual
disability-skeletal anomalies
syndrome
2 Cases
679
Malignant atrophic papulosis
200 Cases
35807
Malignant germ cell tumor of
ovary
0.08 I *
2215
Malignant hyperthermia-
arthrogryposis-torticollis
syndrome
4 Cases
168999
Malignant melanoma of the
mucosa
0.26 I *
293181
Malignant migrating partial
seizures of infancy
94 Cases
3148
Malignant peripheral nerve
sheath tumor
1.0 I
168811
Malignant peritoneal
mesothelioma
1.5 P *
35808
Malignant sex cord stromal
tumor of ovary
1.85 P *
35808
Malignant sex cord stromal
tumor of ovary
0.13 I *
252212
Malignant triton tumor
170 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
41
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
180242
Malignant tumor of fallopian
tubes
1.0 P *
398043
Malignant tumor of penis
1.075 I *
943
Malonic aciduria
34 Cases
52417
MALT lymphoma
4.0 P *
52417
MALT lymphoma
0.3 I *
238744
Mammary-digital-nail
syndrome
11 Cases
397941
MAN1B1-CDG
25 Cases
363649
Mandibular hypoplasia-
deafness-progeroid syndrome
4 Cases
2457
Mandibuloacral dysplasia
40 Cases
443995
Mandibulofacial dysostosis
with alopecia
4 Cases
357158
Mandibulofacial dysostosis-
macroblepharon-macrostomia
syndrome
2 Cases
79113
Mandibulofacial dysostosis-
microcephaly syndrome
107 Cases
52416
Mantle cell lymphoma
3.5 P *
511
Maple syrup urine disease
0.67 BP
99826
Marburg hemorrhagic fever
500 Cases
2461
Marden-Walker syndrome
50 Cases
558
Marfan syndrome
15.0 P
558
Marfan syndrome
25.0 I *
2463
Marfanoid habitus-autosomal
recessive intellectual disability
syndrome
4 Cases
314041
Marfanoid habitus-inguinal
hernia-advanced bone age
syndrome
2 Cases
2464
Marfanoid syndrome, De Silva
type
6 Cases
300912
Marginal zone lymphoma
7.0 P *
559
Marinesco-Sjögren syndrome
200 Cases
560
Marshall syndrome
17 Cases
561
Marshall-Smith syndrome
33 Cases
98292
Mastocytosis
9.0 P *
254534
Maternal 14q32.2
hypermethylation syndrome
3 Cases
254528
Maternal 14q32.2
microdeletion syndrome
6 Cases
2209
Maternal phenylketonuria
10.0 I *
411712
Maternal riboflavin deficiency
1 Case
97678
Maternal uniparental disomy of
chromosome 13
3 Cases
96186
Maternal uniparental disomy of
chromosome 20
12 Cases
96187
Maternal uniparental disomy of
chromosome 21
2 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
96188
Maternal uniparental disomy of
chromosome 22
4 Cases
1349
Maternally-inherited
cardiomyopathy and hearing
loss
2 Families
225
Maternally-inherited diabetes
and deafness
0.1 P *
320360
Maternally-inherited spastic
paraplegia
5 Cases
2470
Matthew-Wood syndrome
40 Cases
3109
Mayer-Rokitansky-Küster-
Hauser syndrome
11.0 BP
2578
Mayer-Rokitansky-Küster-
Hauser syndrome type 2
1.0 BP *
57782
Mazabraud syndrome
54 Cases
562
McCune-Albright syndrome
0.55 P *
2471
McDonough syndrome
2 Families
2473
McKusick-Kaufman syndrome
90 Cases
59306
McLeod neuroacanthocytosis
syndrome
100 Cases
3097
Meacham syndrome
15 Cases
564
Meckel syndrome
4.0 BP
70588
Meconium aspiration syndrome
2.44 P *
2006
Median cleft lip/mandibule
70 Cases
2699
Median nodule of the upper lip
4 Families
370127
Medich giant platelet syndrome
3 Cases
42
Medium chain acyl-CoA
dehydrogenase deficiency
6.85 P
42
Medium chain acyl-CoA
dehydrogenase deficiency
12.0 BP *
171851
MEDNIK syndrome
5 Families
1332
Medullary thyroid carcinoma
7.0 P *
1332
Medullary thyroid carcinoma
0.22 I *
616
Medulloblastoma
1.0 P *
616
Medulloblastoma
0.11 I *
98954
Meesmann corneal dystrophy
250 Cases
2241
Megacystis-microcolon-
intestinal hypoperistalsis
syndrome
230 Cases
2478
Megalencephalic
leukoencephalopathy with
subcortical cysts
100 Cases
60040
Megalencephaly-capillary
malformation-polymicrogyria
syndrome
170 Cases
83473
Megalencephaly-
polymicrogyria-postaxial
polydactyly-hydrocephalus
syndrome
6 Cases
457359
Megalencephaly-severe
kyphoscoliosis-overgrowth
syndrome
2 Cases
Without specification, published figures are worldwide. An asterisk * indicates European data.
P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence
Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2016 - Number 1
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
42
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
352328
MEGDEL syndrome
20 Cases
85282
MEHMO syndrome
8 Cases
550
MELAS
0.6 P *
2482
Melhem-Fahl syndrome
2 Cases
2484
Melnick-Needles syndrome
70 Cases
2485
Melorheostosis
0.09 P *
1879
Melorheostosis with
osteopoikilosis
5 Families
401973
MEND syndrome
19 Cases
319547
Mendelian susceptibility to
mycobacterial diseases due to
complete IFNgammaR2
deficiency
12 Cases
319558
Mendelian susceptibility to
mycobacterial diseases due to
complete IL12B deficiency
49 Cases
319552
Mendelian susceptibility to
mycobacterial diseases due to
complete IL12RB1 deficiency
140 Cases
319563
Mendelian susceptibility to
mycobacterial diseases due to
complete ISG15 deficiency
3 Cases
319600
Mendelian susceptibility to
mycobacterial diseases due to
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