Multi Systeem Stoornissen betreffende de ontwikkeling

Waardenburg Syndrome:

1. Waardenburg syndrome type I
   
   Synoniemen: WS, WS1, WS2, Klein-Waardenburg syndrome, WS3, Waardenburg-Shah syndrome, WS4
   
   OMIM: 193500
   
   OMIM: Clinical Synopsis
   
   Who named it?: Petrus Johannus Waardenburg
   
   e-Medicine: Waardenburg Syndrome
   
   
    
2. Waardenburg syndrome type II A
   
   Synoniemen: WS, WS1, WS2, Klein-Waardenburg syndrome, WS3, Waardenburg-Shah syndrome, WS4
   
   OMIM: 193510
   
   OMIM: Clinical Synopsis
   
   Who named it?: Petrus Johannus Waardenburg
   
   e-Medicine: Waardenburg Syndrome
   
   
    
3. Waardenburg syndrome type III
   
   Synoniemen: WS, WS1, WS2, Klein-Waardenburg syndrome, WS3, Waardenburg-Shah syndrome, WS4
   
   OMIM: 148820
   
   OMIM: Clinical Synopsis
   
   Who named it?: Petrus Johannus Waardenburg
   
   e-Medicine: Waardenburg Syndrome
    

Craniosynostosis Syndromes:

1. Apert syndrome
   
   Synoniemen: acrocephalosyndactyly Apert type, acrocephalosyndactyly type I, type I acrocephalosyndactyly, Apert's syndrome, typical acrocephalosyndactyly
   
   OMIM: 101200
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Apert Syndrome
   
   GeneReviews: Craniosynostosis syndromes
   
   Who named it?:  Eugène Charles Apert
   
   
    
2. Pfeiffer syndrome
   
   OMIM: 101600
   
   OMIM: Clinical Synopsis
   
   GeneReviews: Craniosynostosis syndromes
   
   
    
3. Saethre-Chotzen syndrome
   
   OMIM: 101400
   
   OMIM: Clinical Synopsis
   
   GeneReviews: Saethre-Chotzen syndrome
   
   GeneReviews: Craniosynostosis syndromes
   
    
4. Crouzon syndrome
   
   Synoniemen: craniofacial dysostosis, Crouzon-Apert syndrome, premature obliteration and ossification of two or more sutures, premature ossification of coronal and sagittal sutures, craniostenosis
   
   OMIM: 123500
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Crouzon Syndrome
   
   Who named it?:  Louis Edouard Octave Crouzon
   
   Extra informatie: Crouzon's Bridge of Hope Foundation
   
   
    
5. Muenke syndrome
   
   Synoniemen: Muenke's nonsyndromic coronal craniosynostosis
   
   OMIM: 602849
   
   OMIM: 134934
   
   GeneReviews: Craniosynostosis syndromes
   
   
    
6. Jackson-Weiss syndrome
   
   Synoniemen: craniosynostosis, midfacial hypoplasia, and foot abnormalities
   
   OMIM: 123150
   
   OMIM: Clinical Synopsis
    

Treacher Collins Syndrome:

1. Treacher Collins syndrome
   
   Synoniemen: Treacher Collins-Franceschetti Syndrome; TCOF
   
   OMIM: 154500
   
   OMIM: Clinical Synopsis
   
   GeneReviews: Treacher Collins Syndrome
   
   e-Medicine: Congenital Syndromes
   
   e-Medicine: Manifestations of Craniofacial Syndromes
   
   Who named it?: Edward Treacher Collins
   
   Extra informatie: The Treacher Collins Foundation

Aarskog-Scott Syndrome:

1. Aarskog-Scott Syndrome ( Faciogenital Dysplasia )
   
   Synoniemen: Facial-digital-genital syndrome, facio-genito-digital syndrome, faciogenital dysplasia, shawl scrotum syndrome.
   
   OMIM: 305400
   
   OMIM: Clinical Synopsis
   
   Who named it?: Dagfinn Aarskog;   Charles I. Scott, Jr

Rubinstein-Taybi Syndrome:

1. Rubinstein-Taybi syndrome
   
   Synoniemen: Rubinstein syndrome;  Broad Thumb-Hallux Syndrome
   
   OMIM: 180849
   
   OMIM: Clinical Synopsis
   
   Extra informatie: Rubinstein-Taybi syndroom ( NL )
   
   e-Medicine: Rubinstein-Taybi syndrome
   
   Who named it?:  Jack Herbert Rubinstein ;  Hooshang Taybi

Smith-Lemli-Opitz Syndrome:

1. Smith-Lemli-Opitz Syndrome
   
   Synoniemen: SLOS;  RSH Syndrome
   
   OMIM: 270400
   
   OMIM: Clinical Synopsis
   
   GeneReviews: Smith-Lemli-Opitz Syndrome
   
   e-Medicine: Smith-Lemli-Opitz Syndrome
   
   Who Named it?:  Luc Lemli;   John Marius Opitz;   David Weyhe Smith
   
   
    
2. Smith-Lemli-Opitz Syndrome Type II
   
   Synoniemen: SLOS;  RSH Syndrome
   
   OMIM: 268670
   
   OMIM: Clinical Synopsis
   
   GeneReviews: Smith-Lemli-Opitz Syndrome
   
   e-Medicine: Smith-Lemli-Opitz Syndrome
   
   Who Named it?:  Luc Lemli;   John Marius Opitz;   David Weyhe Smith
   
    

Holoprosencephaly:

1. Holoprosencephaly 1
   
   OMIM: 236100
   
   OMIM: Clinical Synopsis
   
    
2. Holoprosencephaly 2
   
   OMIM: 157170
   
   OMIM: Clinical Synopsis
   
    
3. Holoprosencephaly 3
   
   OMIM: 142945
   
   OMIM: Clinical Synopsis

Hirschsprung Disease:

1. Hirschsprung disease 1
   
   OMIM: 142623
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Hirschsprung’s disease
   
   GeneReviews: Hirschsprung’s disease
   
   Who named it?: Harald Hirschsprung
   
   Vereniging Ziekte van Hirschsprung
   
    
2. Hirschsprung disease 2
   
   OMIM: 600155
   
   OMIM: Clinical Synopsis
   
   e-Medicine: Hirschsprung’s disease
   
   GeneReviews: Hirschsprung’s disease
   
   Who named it?: Harald Hirschsprung
   
   Vereniging Ziekte van Hirschsprung

Lowe Syndrome:

1. Lowe syndrome
   
   Synoniemen: Oculocerebrorenal Dystrophy
   
   OMIM: 309000
   
   OMIM: Clinical Synopsis
   
   Extra informatie: Lowe Syndrome Association
   
   Extra informatie: GeneReviews: Lowe Syndrome
   
   e-Medicine: Lowe Syndrome
   
   Who named it?: Charles Upton Lowe

Campomelic Dysplasia/Autosomal Sex Reversal/SOX9:

1. Campomelic dysplasia
   
   OMIM: 114290
   
   OMIM: Clinical Synopsis

Hereditary Hearing Loss;

1. hereditary Low-frequency hearing loss
   
   OMIM: 124900
   
   OMIM: Clinical Synopsis

Rett Syndrome:

1. Rett syndrome
   
   Synoniemen: Pervasive Developmental Disorder
   
   OMIM: 312750
   
   OMIM: Clinical Synopsis
   
   Extra informatie: The Rett Syndrome Research Foundation (RSRF)
   
   Extra informatie: GeneReviews: Rett Syndrome
   
   e-Medicine: Rett Syndrome
   
   Who named it?:  Andreas Rett
    

Timothy Syndrome:

1. Timothy syndrome
   
   Synoniemen: Long QT Syndrome with syndactyly
   
   OMIM: 601005
   
   OMIM: Clinical Synopsis
   
   OMIM: Calcium channel, voltage dependent; L-Type, Alpha-1C subunit; CACNA1C
   
   Who named it?:  Katherine W. Timothy
   
   News-Medical.net: Researchers pinpoint genetic cause of Timothy syndrome
   
    

Noonan Syndrome:

 

1. Noonan syndrome 1; NS1 ( autosomal dominant )
   
   Synoniemen: Noonan Syndrome; Male Turner Syndrome; Female Pseudo-Turner Syndrome
   
   OMIM: 163950
   
   OMIM: Clinical Synopsis
   
   Who Named It?: Jacqueline Anne Noonan
   
   e-Medicine: Noonan Syndrome
   
    
2. Neurofibromatosis-Noonan syndrome; NFNS
   
   OMIM: 601321
   
   OMIM: Clinical Synopsis
   
    
3. Noonan syndrome 2  ( autosomal recessive )
   
   OMIM: 605275
   
   Who Named It?: Jacqueline Anne Noonan
   
   e-Medicine: Noonan Syndrome
   
    

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