Kleefstra Syndrome Phenotype Aug 2011 flash
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Kleefstra syndrome (9q34.3 microdeletion syndrome) Phenotype August 2011 (English language version)
Core phenotype Intellectual disability / developmental delay (with poor speech development) Hypotonia Distinct facial features
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
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
Other common features Gastrointestinal abnormalities (constipation, reflux) Respiratory infections Cardiac defects Epilepsy Childhood obesity Autistic-like behaviour continued over
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
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
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
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/
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
Kleefstra syndrome 28 weeks gestation
Children with Kleefstra syndrome Birth to 1 Year
One year to three years old
Three years to five years old
Five years to eight years old
Eight years to eleven years old
Eleven years to twenty two years old
1st Unique/Jeans for Genes Kleefstra syndrome / 9q34.3 microdeletion syndrome family weekend (16th – 18th April 2010)
This presentation is dedicated to the memory of Kimberley Spencer, a special and inspirational girl.
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)
by TheFoleyFamily | Added: 11 months ago
Language: English | Topic: Health & Beauty
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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
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