|
partial IRF8 deficiency
2 Cases
319595
Mendelian susceptibility to
mycobacterial diseases due to
partial STAT1 deficiency
8 Cases
2495
Meningioma
0.15 I *
565
Menkes disease
0.33 BP *
157801
Mesoaxial synostotic
syndactyly with phalangeal
reduction
6 Families
2496
Mesomelia-synostoses
syndrome
5 Cases
2631
Mesomelic dwarfism-cleft
palate-camptodactyly syndrome
2 Cases
1836
Mesomelic dysplasia,
Kantaputra type
5 Families
2499
Metachondromatosis
25 Cases
512
Metachromatic leukodystrophy
0.1 P *
512
Metachromatic leukodystrophy
1.47 BP *
1240
Metaphyseal
acroscyphodysplasia
4 Cases
1040
Metaphyseal anadysplasia
27 Cases
33067
Metaphyseal chondrodysplasia,
Jansen type
16 Cases
166038
Metaphyseal chondrodysplasia,
Kaitila type
2 Cases
166035
Metaphyseal chondrodysplasia-
retinitis pigmentosa syndrome
2 Cases
2502
Metaphyseal dysostosis-
intellectual disability-
conductive deafness syndrome
3 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
2504
Metaphyseal dysplasia-
maxillary hypoplasia-
brachydacty syndrome
2 Families
2635
Metatropic dysplasia
0.2 BP *
1923
Methimazole embryofetopathy
40 Cases
2169
Methylcobalamin deficiency
type cblE
27 Cases
2170
Methylcobalamin deficiency
type cblG
33 Cases
26
Methylmalonic acidemia with
homocystinuria
500 Cases
79284
Methylmalonic acidemia with
homocystinuria type cblF
15 Cases
79282
Methylmalonic acidemia with
homocystinuria, type cblC
500 Cases
79283
Methylmalonic acidemia with
homocystinuria, type cblD
17 Cases
369955
Methylmalonic acidemia with
homocystinuria, type cblJ
2 Cases
369962
Methylmalonic acidemia with
homocystinuria, type cblX
18 Cases
280183
Methylmalonic aciduria due to
transcobalamin receptor defect
5 Cases
29
Mevalonic aciduria
30 Cases
79329
MGAT2-CDG
13 Cases
2510
Micro syndrome
203 Cases
2511
Microbrachycephaly-ptosis-
cleft lip syndrome
2 Cases
85172
Microcephalic osteodysplastic
dysplasia, Saul-Wilson type
4 Cases
2637
Microcephalic osteodysplastic
primordial dwarfism type II
150 Cases
2636
Microcephalic osteodysplastic
primordial dwarfism types I and
III
30 Cases
329228
Microcephalic primordial
dwarfism due to ZNF335
deficiency
7 Cases
319671
Microcephalic primordial
dwarfism, Alazami type
10 Cases
319675
Microcephalic primordial
dwarfism, Dauber type
2 Cases
2643
Microcephalic primordial
dwarfism, Toriello type
2 Cases
436182
Microcephalic primordial
dwarfism-insulin resistance
syndrome
2 Cases
2513
Microcephaly-albinism-digital
anomalies syndrome
2 Cases
3433
Microcephaly-brachydactyly-
kyphoscoliosis syndrome
3 Cases
2523
Microcephaly-brain defect-
spasticity-hypernatremia
syndrome
3 Cases
294016
Microcephaly-capillary
malformation syndrome
10 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
43
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
2516
Microcephaly-cardiac defect-
lung malsegmentation
syndrome
3 Cases
2515
Microcephaly-cardiomyopathy
syndrome
3 Cases
329332
Microcephaly-cerebellar
hypoplasia-cardiac conduction
defect syndrome
4 Cases
2522
Microcephaly-cervical spine
fusion anomalies syndrome
2 Cases
2521
Microcephaly-cleft palate
syndrome
3 Cases
423894
Microcephaly-complex motor
and sensory axonal neuropathy
syndrome
3 Cases
457284
Microcephaly-corpus callosum
hypoplasia-intellectual
disability-facial dysmorphism
syndrome
5 Cases
2533
Microcephaly-deafness-
intellectual disability syndrome
2 Cases
137653
Microcephaly-digital
anomalies-intellectual disability
syndrome
2 Cases
217026
Microcephaly-facio-cardio-
skeletal syndrome,
Hadziselimovic type
5 Cases
2172
Microcephaly-
glomerulonephritis-marfanoid
habitus syndrome
2 Cases
137658
Microcephaly-intellectual
disability-phalangeal and
neurological anomalies
syndrome
3 Cases
457351
Microcephaly-intellectual
disability-sensorineural hearing
loss-epilepsy-abnormal muscle
tone syndrome
14 Cases
2526
Microcephaly-lymphedema-
chorioretinopathy syndrome
50 Families
2528
Microcephaly-microcornea
syndrome, Seemanova type
2 Cases
171703
Microcephaly-polymicrogyria-
corpus callosum agenesis
syndrome
4 Cases
2519
Microcephaly-seizures-
intellectual disability-heart
disease syndrome
2 Cases
423306
Microcephaly-short stature-
intellectual disability-facial
dysmorphism syndrome
2 Cases
397951
Microcephaly-thin corpus
callosum-intellectual disability
syndrome
4 Cases
2535
Microcornea-corectopia-
macular hypoplasia syndrome
3 Cases
2536
Microcornea-glaucoma-absent
frontal sinuses syndrome
4 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
369970
Microcornea-myopic
chorioretinal atrophy-
telecanthus syndrome
14 Cases
231736
Microcornea-posterior
megalolenticonus-persistent
fetal vasculature-coloboma
syndrome
8 Cases
83642
Microcytic anemia with liver
iron overload
3 Cases
217377
Microduplication Xp11.22-
p11.23 syndrome
12 Cases
2538
Microgastria-limb reduction
defect syndrome
16 Cases
50810
Microlissencephaly-micromelia
syndrome
2 Cases
139471
Microphthalmia with brain and
digit anomalies
2 Families
1106
Microphthalmia with limb
anomalies
35 Families
2556
Microphthalmia with linear skin
defects syndrome
55 Cases
77299
Microphthalmia-brain atrophy
syndrome
3 Cases
251279
Microphthalmia-retinitis
pigmentosa-foveoschisis-optic
disc drusen syndrome
4 Cases
727
Microscopic polyangiitis
1.0 I *
83463
Microtia
15.5 BP
139450
Microtia-eye coloboma-
imperforation of the
nasolacrimal duct syndrome
1 Family
2290
Microvillus inclusion disease
137 Cases
2557
Mietens syndrome
9 Cases
2558
Mikati-Najjar-Sahli syndrome
5 Cases
169799
Mild hemophilia B
0.6 P *
531
Miller-Dieker syndrome
1.0 BP *
98919
Miller-Fisher syndrome
0.1 I *
352734
Minimal pigment
oculocutaneous albinism type 1
10 Cases
3004
Mirror polydactyly-vertebral
segmentation-limbs defects
syndrome
0.3 P *
293822
MITF-related melanoma and
renal cell carcinoma
predisposition syndrome
30 Families
352470
Mitochondrial DNA deletion
syndrome with progressive
myopathy
4 Cases
1933
Mitochondrial DNA depletion
syndrome, encephalomyopathic
form with methylmalonic
aciduria
2 Cases
255235
Mitochondrial DNA depletion
syndrome, encephalomyopathic
form with renal tubulopathy
5 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
44
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
369897
Mitochondrial DNA depletion
syndrome, encephalomyopathic
form with variable craniofacial
anomalies
20 Cases
363534
Mitochondrial DNA depletion
syndrome, hepatocerebrorenal
form
3 Cases
254875
Mitochondrial DNA depletion
syndrome, myopathic form
45 Cases
314637
Mitochondrial hypertrophic
cardiomyopathy with lactic
acidosis due to MTO1 deficiency
8 Cases
289560
Mitochondrial membrane
protein-associated
neurodegeneration
0.1 P
2598
Mitochondrial myopathy and
sideroblastic anemia
7 Cases
298
Mitochondrial
neurogastrointestinal
encephalomyopathy
0.1 P *
2443
Mitochondrial oxidative
phosphorylation disorder due to
nuclear DNA anomalies
9.0 P *
447784
Mitochondrial pyruvate carrier
deficiency
4 Cases
746
Mitochondrial trifunctional
protein deficiency
1.0 P *
90056
Moderate and severe traumatic
brain injury
37.8 P *
169796
Moderately severe hemophilia
B
0.6 P *
570
Moebius syndrome
300 Cases
2560
Moebius syndrome-axonal
neuropathy-hypogonadotropic
hypogonadism syndrome
7 Cases
79330
MOGS-CDG
3 Cases
52368
Mohr-Tranebjaerg syndrome
91 Cases
2563
MOMO syndrome
8 Cases
228423
Monocytopenia with
susceptibility to infections
22 Cases
2565
Mononen-Karnes-Senac
syndrome
1 Family
77301
Monosomy 9q22.3
42 Cases
1598
Monosomy 18p
2.0 BP *
574
Monosomy 21
50 Cases
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