Severe combined
immunodeficiency due to LCK
deficiency
4 Cases
300298
Severe congenital hypochromic
anemia with ringed sideroblasts
3 Cases
42738
Severe congenital neutropenia
0.07 P
42738
Severe congenital neutropenia
0.4 BP *
369992
Severe dermatitis-multiple
allergies-metabolic wasting
syndrome
3 Cases
228374
Severe early-onset axonal
neuropathy due to NEFL
deficiency
4 Cases
329249
Severe early-onset obesity-
insulin resistance syndrome due
to SH2B1 deficiency
13 Cases
352577
Severe feeding difficulties-
failure to thrive-microcephaly
due to ASXL3 deficiency
syndrome
4 Cases
169802
Severe hemophilia A
2.8 P *
169793
Severe hemophilia B
0.8 P *
280763
Severe intellectual disability
and progressive spastic
paraplegia
15 Cases
94066
Severe intellectual disability-
epilepsy-anal anomalies-distal
phalangeal hypoplasia
2 Cases
438178
Severe intellectual disability-
epilepsy-cataract syndrome due
to fatty acyl-CoA reductase 1
deficiency
3 Cases
436141
Severe intellectual disability-
hypotonia-strabismus-coarse
face-planovalgus syndrome
6 Cases
363686
Severe intellectual disability-
poor language-strabismus-
grimacing face-long fingers
syndrome
4 Cases
397933
Severe intellectual disability-
progressive postnatal
microcephaly- midline
stereotypic hand movements
syndrome
3 Cases
404473
Severe intellectual disability-
progressive spastic diplegia
syndrome
4 Cases
391307
Severe intellectual disability-
short stature-behavioral
abnormalities-facial
dysmorphism syndrome
3 Cases
324307
Severe lateral tibial bowing
with short stature
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
57
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
369939
Severe motor and intellectual
disabilities-sensorineural
deafness-dystonia syndrome
7 Cases
314655
Severe neonatal hypotonia-
seizures-encephalopathy
syndrome due to 5q31.3
microdeletion
7 Cases
397593
Severe neonatal lactic acidosis
due to NFS1-ISD11 complex
deficiency
5 Cases
209370
Severe neonatal-onset
encephalopathy with
microcephaly
30 Cases
363400
Severe neurodegenerative
syndrome with lipodystrophy
6 Cases
3078
Severe X-linked intellectual
disability, Gustavson type
7 Cases
238329
Severe X-linked mitochondrial
encephalomyopathy
2 Cases
363489
Sex cord-stromal tumor of
testis
0.02 I *
810
Shigellosis
1.59 I *
104008
Short bowel syndrome
3.4 P *
66518
Short fifth metacarpals-insulin
resistance syndrome
6 Cases
93269
Short rib-polydactyly
syndrome, Majewski type
34 Cases
314811
Short stature due to GHSR
deficiency
8 Cases
629
Short stature due to growth
hormone qualitative anomaly
3 Cases
2867
Short stature, Brussels type
2 Cases
435804
Short stature-advanced bone
age-early-onset osteoarthritis
syndrome
3 Families
397623
Short stature-auditory canal
atresia-mandibular hypoplasia-
skeletal anomalies syndrome
4 Cases
2994
Short stature-craniofacial
anomalies-genital hypoplasia
syndrome
3 Families
2649
Short stature-intellectual
disability-eye anomalies-cleft
lip/palate syndrome
3 Cases
314394
Short stature-onychodysplasia-
facial dysmorphism-
hypotrichosis syndrome
14 Cases
391677
Short stature-optic atrophy-
Pelger-Huët anomaly syndrome
34 Cases
85442
Short stature-pituitary and
cerebellar defects-small sella
turcica syndrome
5 Families
2865
Short stature-webbed neck-
heart disease syndrome
4 Cases
3163
SHORT syndrome
32 Cases
2832
Short tarsus-absence of lower
eyelashes syndrome
11 Cases
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
357175
Short ulna-dysmorphism-
hypotonia-intellectual disability
syndrome
4 Cases
1940
Shoulder and thorax deformity-
congenital heart disease
syndrome
1 Family
2462
Shprintzen-Goldberg syndrome
60 Cases
811
Shwachman-Diamond
syndrome
0.28 P
811
Shwachman-Diamond
syndrome
0.5 BP
309294
Sialidosis
0.05 BP *
3166
Sialuria
5 Cases
232
Sickle cell anemia
22.0 P *
3167
Siegler-Brewer-Carey syndrome
2 Cases
71276
Silent sinus syndrome
98 Cases
3168
Sillence syndrome
5 Cases
813
Silver-Russell syndrome
0.7 BP *
813
Silver-Russell syndrome
15.5 I *
397590
Silver-Russell syndrome due to
a point mutation
8 Cases
373
Simpson-Golabi-Behmel
syndrome
250 Cases
79022
Simpson-Golabi-Behmel
syndrome type 2
4 Cases
85191
Singleton-Merten dysplasia
10 Cases
324321
Sinoatrial node dysfunction and
deafness
8 Cases
3169
Sirenomelia
0.01 P
3169
Sirenomelia
0.98 BP
2882
Sitosterolemia
100 Cases
1436
Skeletal dysplasia-intellectual
disability syndrome
4 Cases
293165
Skin fragility-woolly hair-
palmoplantar keratoderma
syndrome
7 Cases
238459
SLC35A1-CDG
1 Case
356961
SLC35A2-CDG
4 Cases
70573
Small cell lung cancer
11.2 P *
93974
Smith-Fineman-Myers
syndrome
11 Families
818
Smith-Lemli-Opitz syndrome
3.7 BP *
819
Smith-Magenis syndrome
4.0 P
820
Sneddon syndrome
0.4 I *
91496
Snowflake vitreoretinal
degeneration
50 Cases
306577
Sodium channelopathy-related
small fiber neuropathy
8 Cases
3394
Soft tissue sarcoma
30.0 P *
97230
Solar urticaria
36.0 P *
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
58
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
209964
Solitary rectal ulcer syndrome
1.0 I *
97283
Somatostatinoma
0.0025 I *
821
Sotos syndrome
7.1 BP
79132
Sparse hair-short stature-skin
anomalies syndrome
4 Cases
1182
Spastic ataxia with congenital
miosis
3 Families
2572
Spastic ataxia-corneal
dystrophy syndrome
1 Family
99015
Spastic paraplegia type 2
100 Cases
99013
Spastic paraplegia type 7
4.0 P *
2816
Spastic paraplegia-epilepsy-
intellectual disability syndrome
5 Cases
2819
Spastic paraplegia-facial-
cutaneous lesions syndrome
5 Cases
2818
Spastic paraplegia-glaucoma-
intellectual disability syndrome
2 Families
2820
Spastic paraplegia-nephritis-
deafness syndrome
4 Cases
2821
Spastic paraplegia-neuropathy-
poikiloderma syndrome
1 Family
320406
Spastic paraplegia-optic
atrophy-neuropathy syndrome
75 Cases
329475
Spastic paraplegia-Paget
disease of bone syndrome
1 Family
2826
Spastic paraplegia-precocious
puberty syndrome
2 Cases
464282
Spastic paraplegia-severe
developmental delay-epilepsy
syndrome
16 Cases
3011
Spastic tetraplegia-retinitis
pigmentosa-intellectual
disability syndrome
2 Cases
447997
Spastic tetraplegia-thin corpus
callosum-progressive postnatal
microcephaly syndrome
15 Cases
401866
Spasticity-ataxia-gait anomalies
syndrome
3 Cases
352403
Spectrin-associated autosomal
recessive cerebellar ataxia
2 Families
99865
Spermatocytic seminoma
0.03 I *
314432
Spigelian hernia-cryptorchidism
syndrome
15 Cases
90058
Spinal cord injury
32.0 P *
98920
Spinal muscular atrophy with
respiratory distress type 1
128 Cases
404521
Spinal muscular atrophy with
respiratory distress type 2
1 Case
73245
Spinal muscular atrophy-
Dandy-Walker malformation-
cataracts syndrome
2 Cases
2590
Spinal muscular atrophy-
progressive myoclonic epilepsy
syndrome
10 Cases
98755
Spinocerebellar ataxia type 1
1.5 P
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
98756
Spinocerebellar ataxia type 2
1.5 P
98757
Spinocerebellar ataxia type 3
1.5 P
98766
Spinocerebellar ataxia type 5
3 Families
98767
Spinocerebellar ataxia type 11
51 Cases
98762
Spinocerebellar ataxia type 12
40 Families
98768
Spinocerebellar ataxia type 13
20 Cases
98763
Spinocerebellar ataxia type 14
20 Families
98759
Spinocerebellar ataxia type 17
100 Families
98771
Spinocerebellar ataxia type 18
26 Cases
98772
Spinocerebellar ataxia type
19/22
12 Cases
101110
Spinocerebellar ataxia type 20
20 Cases
98773
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