Kleefstra Syndrome Phenotype Aug 2011 flash


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mcsantos06 (6 years ago)

diego syndrome

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Kleefstra syndrome (9q34.3 microdeletion syndrome) Phenotype August 2011 (English language version)

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Core phenotype Intellectual disability / developmental delay (with poor speech development) Hypotonia Distinct facial features

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Recognisable facial phenotype Flat facies Mid-face hypoplasia Synophrys/Arched eyebrows/straight eyebrows Anteverted nares/short nose/depressed nasal bridge Thin upper lip, cupid bowed, with down-turned corners continued over

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Recognisable facial phenotype continued Hypertelorism Relative or absolute microcephaly and brachycephaly Open mouth in infancy with protruding tongue and everted, thickened lower lip Down- or up-slanted palpebral fissures

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Other common features Gastrointestinal abnormalities (constipation, reflux) Respiratory infections Cardiac defects Epilepsy Childhood obesity Autistic-like behaviour continued over

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Common features continued Sleep disturbances Post pubertal neuropsychiatric movement disorder involving loss of previously gained abilities, with motor and motivational disturbances Eye abnormalities: disorders of eye muscles Feeding difficulties in infancy Genital abnormalities in males: cryptorchidism, hypospadias, micropenis

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Less common features Abnormalities of the hands and feet: brachydactyly, tapering fingers, single palmar crease, talipes, clinodactyly, syndactyly Deafness/hearing loss Kidney abnormalities: hydronephrosis, renal cysts Abnormalities of the teeth: natal and widely-spaced continued over

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Less common features continued Features of heritable disorders of connective tissue: joint laxity and hernias Self harming behaviours Thickened ear helices Anal atresia Depigmentation Trigonocephaly Omphalocele

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Expert geneticist contact details Dr Tjitske Kleefstra t.kleefstra@antrg.umcn.nl   849 Dept of Human Genetics PO Box 9101 6500 HB Nijmegen The Netherlands Dr Svetlana Yatsenko yatsenkosa@mail.magee.edu University of Pittsburgh, Magee Woman's Hospital Associate Director Cytogenetics Laboratory Assistant Professor, Department of OB/GYN 300 Halket St, Room 1233 Pittsburgh, PA, 15213-3180 USA Gene Review: http://www.ncbi.nlm.nih.gov/books/NBK47079/

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Family support groups Web site and forum www.kleefstrasyndrome.org Kleefstra syndrome Facebook group Rare Chromosome Disorder Support Group Unique www.rarechromo.org CDO www.chromodisorder.org

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Kleefstra syndrome 28 weeks gestation

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Children with Kleefstra syndrome Birth to 1 Year

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One year to three years old

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Three years to five years old

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Five years to eight years old

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Eight years to eleven years old

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Eleven years to twenty two years old

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1st Unique/Jeans for Genes Kleefstra syndrome / 9q34.3 microdeletion syndrome family weekend (16th – 18th April 2010)

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This presentation is dedicated to the memory of Kimberley Spencer, a special and inspirational girl.

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Thank you for watching. This presentation may be forwarded freely to other geneticists, doctors or medical students. For further information please contact: Brian Foley (b.foley1@ntlworld.com)

Summary: Kleefstra Syndrome Phenotype presentation intended for geneticists, paediatricians, other doctors and medical students. For more info. or a copy of the Kleefstra Syndrome questionnaire contact Brian Foley at b.foley1@ntlworld.com

Tags: kleefstra syndrome 9q34.3 deletion genetics dysmorphology diagnosis paediatrics