CORNELIA DE LANGE

CORNELIA DE LANGE SYNDROME Extremely rare Clinically heterogenous developmental disorder Majority of cases include - GROWTH IMPAIRMENT LEARNING DISABILITY DYSMORPHIC FACIES ###### EPIDEMIOLOGY ###### 1:10,000 -30,000 births No recognised facial or gender predilection ###### HISTORY & ETYMOLOGY ###### Initially described by BRACHMAN in 1916 Described in full climical presentation by CORNELIA DE LANGE in 1933 ###### CLINICAL FEATURES ###### ----------FACIAL FEATURES---------- Small Nose Anteverted nostrills Depressed Nasal Bridge Long philtrum Thin upper lip Synophrys -eyebrows meet midline Downturned corners of mouth micrognathia Bushy eyebrows Long curly eye lashes Late erupting hypoplastic teeth ---------- LIMB MALFORMATIONS ---------- Micromelia Phocomelia Oligodactyly Syndactyly Clinodactyly -incurved 5th finger Ectrodactyly - CLEFT HAND / LOBSTER CLAW HAND Proximal thumb implantation * Simian crease ---------- GENITAL ABNORMALITIES ---------- Hypoplasia Hypospadiasis Undescended testis ---------- OCCULAR ABNORMALITIES ---------- Ptosis Nystagmus Myopia Hylermetropia ---------- CARDIAC ABNORMALITIES ---------- ASD VSD Pulmonary Stenosis Coarctation of Aorta ---------- SKELETAL ABNORMALITIES ---------- Microbrachycephaly Scoliosis Osteoporosis ______in adolescence ---------- NEUROLOGICAL ABNORMALITIES ---------- Mental Retardation Seizure Social anxiety Intellectual disability Autistic like behaviour - Self stimulation Self Injury Aggression Strong preference to structured routine --------- DEVELOPMENTAL DISORDERS ---------- Developmental delay Small prenatal birth size - IUGR Short stature ---------- GASTROINTESTINAL ABNORMALITIES---------- Congenital Diaphragmatic Hernia Barret's oesophagus GERD * Premature Ageing - premature greying of hair * Hirsuitism * Bushy eye brows * Low set hairline over front and back * Hearing impairment ###### GENETICS ###### *Most cases are AUTOSOMAL DOMINANT *Autosomal Recessive cases also seen *Some have abnormalities in 3q26.3 chromosome *Heterozygous mutation in cohesion regulator - NIPBL ( NIPped B Like) protein or Cohesin structural component SMC1A or SMC3 ( Structural Maintenance of Chromosomes protein - SMC) seen in approximately 65% cases. *Other genes involved are - RAD21 ( other associated syndrome is MUNGAN SYNDROME) - HDAC8 ( Histone DeACetylase 8) ###### DIAGNOSIS ###### *MARKERS : PAPP-a (Pregnancy Associated Plasma Protein -a---------by syncitiotrophoblast) ----Reduced MSAFP ( Maternal Serum Alpha Protein )--- Abnormally reduced in some cases * ANTENATAL ULTRASOUND Early first trimester ultrasound - NUCHAL TRANSLUCENCY - Increased

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