Browse the quick reference list of Genetic syndromes in Children Commonly asked in OSCE Stations. It includes involved genes, chromosomes, types of inheritance wherever possible. The list is sorted alphabetically.
The focus is on commonly asked Syndromes rather than the entire list of all syndromes. These might be useful for rapid and slim revision of OSCE and MCQ questions in DNB and MRCPCH exams. Feel Free to correct or add more using upload feature.
Microcephaly, Microganthism, Hypertelorism, low-set ears, short fingers, single palmar crease
Cry that sounds similar to a cat, LBW, Hypotonia, Difficult swallow, Severe speech issues, ASD, VSD, PDA
FGFR2, FGFR3 AD
Craniosynostosis: turricephaly, trigonocephaly- fusion of the metopic suture, brachycephaly- fusion of the coronal suture, dolichocephaly- fusion of the sagittal suture, plagiocephaly- unilateral premature closure of lambdoid and coronal sutures, oxycephaly- fusion of coronal and lambdoidal sutures, frontal bossing, hypertelorism
Classic triad of pseudohermaphroditism, mesangial renal sclerosis, and Wilms' tumor.
Growth retardation, Abnormal skeletal development, Nephropathy, and Wilms' tumor. Early nephrotic syndrome
De Grouchy syndrome now Distal 18q- syndrome
Deletion of Chr 18
Rocker-bottom feet, Cleft lip and palate, horseshoe kidney, hydronephrosis, polycystic kidney, cryptorchidism, and hypospadias, midfacial hypoplasia
Hypotonia, seizures, CNS Dysmyelination, Hypoplasia of the corpus callosum, low IgA levels
Chromosome 21 has 3 copies, Robertsonian translocation (2 to 4%)
Flat head, large tongue, flat nasal bridge, epicanthic fold, slanting eyes, short hand and neck, Bushfield spots in eye, abnormal dentition, single transverse palmar crease, sandal gap deformity
Low IQ, Stunted growth, umbilical hernia (90%), Hypotonia, congenital heart disease (ASD, VSD), strabismus, undescended testes, hyper flexible ligaments, epilepsy, Increased risk of ALL, AML, Hypothyroidism, lower rates of fertility
Di George's syndrome
Cleft palate, velopharyngeal insufficiency
Cardiac abnormality (Interrupted aortic arch, truncus arteriosus, and tetralogy of Fallot), Abnormal facies, Thymic aplasia, Cleft palate, Hypocalcemia/hypoparathyroidism, Learning disabilities, Recurrent infections, Neonatal seizure due to hypocalcemia, hypothyroidism, increased risk of schizophrenia
Duchenne muscular dystrophy
Dystrophin gene at locus Xp21. Short arm of the X chromosome, X linked recessive
Progressive muscle weakness, first seen in, voluntary muscles followed by involuntary muscles.
Pseudohypertrophy of calf, Regression of motor skills, Dilated cardiomyopathy, Gowers sign, contractures, ADHD, Dyslexia
Chromosome 18 Trisomy, 2nd Most common trisomy, 80% female, 95% spontaneous abortions
Microcephaly, LBW, smallmouth, chin, Low set and malformed ears, short sternum,rocker-bottom feet, flexed and overlapping fingers
Low survival rate, Malformation of heart, kidney, developmental delay
Autosomal Dominant, mutation of collagen encoding and related genes (COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, ADAMTS2 etc)
Gorlin's sign - Can easily touch tongue to the nose, large eyes, an undersized chin, sunken cheeks, a thin nose and lips (vascular variant), club foot, tendon and/or muscle rupture, acrogeria (premature aging of the skin of extremities