12 Families
459070
X-linked intellectual disability-
cerebellar hypoplasia-spondylo-
epiphyseal dysplasia syndrome
2 Cases
85330
X-linked intellectual disability-
corpus callosum agenesis-
spastic quadriparesis syndrome
4 Cases
163979
X-linked intellectual disability-
craniofacioskeletal syndrome
7 Cases
85280
X-linked intellectual disability-
cubitus valgus-dysmorphism
syndrome
5 Cases
1568
X-linked intellectual disability-
Dandy-Walker malformation-
basal ganglia disease-seizures
syndrome
10 Cases
2958
X-linked intellectual disability-
dysmorphism-cerebral atrophy
syndrome
8 Cases
85319
X-linked intellectual disability-
epilepsy-progressive joint
contractures-dysmorphism
syndrome
2 Cases
85317
X-linked intellectual disability-
hypogammaglobulinemia-
progressive neurological
deterioration syndrome
3 Cases
3055
X-linked intellectual disability-
hypogonadism-ichthyosis-
obesity-short stature syndrome
4 Cases
85329
X-linked intellectual disability-
hypotonia-facial dysmorphism-
aggressive behavior 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
65
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
457260
X-linked intellectual disability-
hypotonia-movement disorder
syndrome
38 Cases
423479
X-linked intellectual disability-
limb spasticity-retinal
dystrophy-diabetes insipidus
syndrome
2 Cases
85320
X-linked intellectual disability-
macrocephaly-macroorchidism
syndrome
12 Cases
2898
X-linked intellectual disability-
plagiocephaly syndrome
2 Cases
85318
X-linked intellectual disability-
precocious puberty-obesity
syndrome
3 Cases
3077
X-linked intellectual disability-
psychosis-macroorchidism
syndrome
6 Cases
3052
X-linked intellectual disability-
seizures-psoriasis syndrome
4 Cases
457240
X-linked intellectual disability-
short stature-overweight
syndrome
20 Cases
163982
X-linked intellectual disability-
spastic quadriparesis syndrome
9 Cases
452
X-linked lissencephaly with
abnormal genitalia
30 Families
2442
X-linked lymphoproliferative
disease
0.05 P *
1131
X-linked mandibulofacial
dysostosis
7 Cases
319605
X-linked mendelian
susceptibility to mycobacterial
diseases
13 Cases
319612
X-linked mendelian
susceptibility to mycobacterial
diseases due to IKBKG
deficiency
4 Cases
435938
X-linked microcephaly-growth
retardation-prognathism-
cryptorchidism syndrome
3 Cases
25980
X-linked myopathy with
excessive autophagy
15 Families
178461
X-linked myopathy with
postural muscle atrophy
7 Families
456328
X-linked myotubular myopathy-
abnormal genitalia syndrome
4 Cases
85334
X-linked neurodegenerative
syndrome, Bertini type
7 Cases
85336
X-linked neurodegenerative
syndrome, Hamel type
10 Cases
314978
X-linked non progressive
cerebellar ataxia
3 Families
391330
X-linked osteoporosis with
fractures
5 Families
363654
X-linked parkinsonism-
spasticity syndrome
5 Cases
83648
X-linked recessive intellectual
disability-macrocephaly-ciliary
dysfunction syndrome
1 Family
ORPHA
Number
Disease
or Group of diseases
Estimated
prevalence/incidence
(/100,000)
Number of
published
cases or
families
54
X-linked recessive ocular
albinism
0.58 BP *
85453
X-linked reticulate pigmentary
disorder with systemic
manifestations
6 Families
792
X-linked retinoschisis
5.0 P
431272
X-linked scapuloperoneal
muscular dystrophy
22 Cases
86788
X-linked severe congenital
neutropenia
45 Cases
75563
X-linked sideroblastic anemia
200 Cases
2802
X-linked sideroblastic anemia
and ataxia
5 Families
100997
X-linked spastic paraplegia type
16
1 Family
171607
X-linked spastic paraplegia type
34
24 Cases
3175
X-linked spasticity-intellectual
disability-epilepsy syndrome
6 Cases
85297
X-linked spinocerebellar ataxia
type 3
5 Cases
85292
X-linked spinocerebellar ataxia
type 4
1 Family
910
Xeroderma pigmentosum
0.23 BP *
90342
Xeroderma pigmentosum
variant
50 Cases
220295
Xeroderma pigmentosum-
Cockayne syndrome complex
30 Cases
3469
XK aprosencephaly
10 Cases
314389
Xq12-q13.3 duplication
syndrome
3 Cases
261483
Xq27.3q28 duplication
syndrome
8 Cases
1770
XY type gonadal dysgenesis-
associated anomalies syndrome
2 Cases
370930
XYLT1-CDG
2 Cases
662
Yellow nail syndrome
150 Cases
314485
Young adult-onset distal
hereditary motor neuropathy
3 Cases
2828
Young-onset Parkinson disease
15.0 P *
3472
Yunis-Varon syndrome
25 Cases
97240
Zebra body myopathy
10 Cases
217017
Zechi-Ceide syndrome
3 Cases
50812
Zellweger-like syndrome
without peroxisomal anomalies
2 Cases
3473
Zimmermann-Laband
syndrome
52 Cases
3253
Zlotogora-Ogur syndrome
50 Cases
913
Zollinger-Ellison syndrome
0.125 I
For any questions or comments, please contact us:
contact.orphanet@inserm.fr
Editor-in-chief : Ana Rath – Editor of the report : Stéphanie NGUENGANG WAKAP - Technical support : Samuel Demarest
and Valérie Lanneau
The correct form when quoting this document is :
«Prevalence of rare diseases: Bibliographic data », Orphanet Report Series, Rare Diseases collection, November
2016,
Number 1 : Diseases listed in alphabetical order
http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf
This Orphanet Report Series is part of the joint action 677024 RD-ACTION which has received funding from the
European Union’s Health Programme (2014-2020).
The content of this Orphanet Report Series represents the views of the author only and is his/her sole responsibility; it
can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and
Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not
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