Index Numbers 0-9: Contact a Family - for families with disabled children: information on rare syndromes and disorders

photo of a disabled child with a family member

Please use the index below to access the condition you require information on. It may take longer to find what you are looking for this way compared with our "search this site" facility in the navigator on the left but we try to point you in the most appropriate direction using this index and therefore the results should be better. For speed, this index has been split into separate alphabetical files:

[ numbers 0-9 ] [ A ] [ B ] [ C ] [ D ] [ E ] [ F ] [ G ]

[ H ] [ I ] [ J ] [ K ] [ L ] [ M ] [ N ] [ O ] [ P ] [ Q ]

[ R ] [ S ] [ T ] [ U ] [ V ] [ W ] [ X ] [ Y ] [ Z ]

Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online, you may wish to use our Contact a Family Helpline service.

13q deletion syndrome see Retinoblastoma
2 Hydroxglutaric Aciduria see Metabolic diseases
2-Methylacetoacetyl-CoA Thiolase Deficiency see Metabolic diseases
21 Hydroxylase Deficiency see Congenital Adrenal Hyperplasia
22q11 Deletion syndromes
3-Hydroxy Acyl CoA Dehydrogenase Deficiency see Metabolic diseases
3-Hydroxy-Methylglutaril CoA Lyase Deficiency see Organic Acidaemias
3-Methylglutaconic Aciduria see Metabolic diseases
4 Hydroxybutyric Aciduria see Metabolic diseases
4p-syndrome see Wolf-Hirschhorn syndrome
5 Alpha Reductase Deficiency see Metabolic diseases
5-Oxoprolinuria see Metabolic diseases




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This is an extract from The Contact a Family Directory which has information on hundreds of conditions affecting both children and adults. Subscriptions are available for the paperback, CD-ROM and website versions of this resource.

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Although great care has been taken in the compilation and preparation of this work to ensure accuracy, Contact a Family cannot accept responsibility for any errors or omissions. Any medical information is provided for education/information purposes. It should be noted that most information written about specific disorders includes the most severe scenario. Many individual cases may not display all the features mentioned and the degree of severity of the features that are displayed may vary a great deal between individual cases. You should obtain further information from your medical practitioner. Any links to external websites have been carefully selected but are provided without any endorsement of the content of those sites. Please refer to our detailed Legal page for more information.
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