Genetic Syndromes


Browse the quick reference list of Genetic syndromes in Children Commonly asked in OSCE Stations. It includes involved gene, chromosome, type 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 in the comment section and they will be updated.


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Name Genotype Phenotype Issues
Angelman Chromosome 15, Absent UBE3A gene Microcephaly, Strabismus, Prominent mandible Intellectual disability, Developmental disability, Seizures, Speech impairment, Atypically happy, Frequent laughter,
Alpha 1-antitrypsin 14q32 Emphysema, Cirrhosis, Panniculitis, Polyangiitis
achondroplasia FGFR3 • Dominant Large head, frontal bossing, flat nasal bridge, Short proximal limbs, Varus, Valgus Disproportionate dwarfism, Recurrent ear infection, Hydrocephalus,
Apert Syndrome FGFR2 • AD Short thumb with typical radial deviation, symbrachyphalangism, Syndactyly, high-arched palate, Narrow palate, craniosynostosis

Name Genotype Phenotype Issues
Beckwith–Wiedemann syndrome IGF-2, CDKN1C, Chr 11 Hemihyperplasia, Macrosomia, Macroglossia, Omphalocoele, Omphalocele, Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma, Neonatal hypoglycemia, Diastasis recti
Bartter syndrome CLCNKB, SLC12A1 Hypereninemia, hyperaldosteronism, hypercalciuria, abnormal Na+-K+-2Cl− transporter in ascending limb of the loop of Henle Hypokalemia, Hypomagnessium, Normal/low blood pressure, hypochloremic metabolic alkalosis
Bloom syndrome BLM gene, AR Short stature, Proportional dwarf, long and narrow face, telangiectatic, Immunodeficiency, Mental retardation, Elevated rate of mutation increases chances of malignancies

Name Genotype Phenotype Issues
Charcot–Marie–Tooth disease PMP22 Chr 17 Wasting of lower leg muscle looking like an inverted champagne bottle foot drop, pes cavus, pes planus, Retardation growth.
CHARGE syndrome CHD7 gene Coloboma, Heart malformations, Atresia of the choanae, Genital or urinary malformations, Ear anomalies (lop ears), Photophobia, Photosensitivity, Frequent infections, Neuropathy
Chediak–Higashi syndrome lysosomal trafficking regulator (LYST) gene, AR Hypopigmented hair, skin, eyes Recurrent gingivitis, periodontitis
Cri du chat Del Chr 5 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
Crouzon syndrome 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 Exophthalmos, hydrocephalus. Sensorineural hearing loss, Airway issues,

Name Genotype Phenotype Issues
Dent Disease X-linked recessive, Chromosome Xp11.22, gene CLCN5 codes kidney-specific voltage-gated chloride channel Tubular proteinuria, calciurea, Aminiacudrea, Kaliurea Fanconi syndrome, Nephrocalcinosis, Nephrolithiasis, CKD.
Denys–Drash syndrome Mutations - Wilms tumor suppressor gene, WT1. 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
Down Syndrome Chromosome 21 has 3 copies, Robertsonian translocation (2 to 4%) Flat head, large tongue, flat nasal bridge, epicantic fold, slanting eyes, short hand and neck, brushfield spots in eye, abnormal dentition, single transverse palmar crease, sandle gap deformity Low IQ, Stunted growth, umblical hernia (90%), Hypotonea, congenital heart disease (ASD, VSD), strabismus, undescended testes, hyperflexible ligaments, epilepsy, Increased rik of ALL, AML, Hypothyroidism, lower rates of fertility
Di George's syndrome 22q11.2 deletion 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 pschizophrenia
Duchenne muscular dystrophy Dystrophin gene at locus Xp21. Short arm of the X chromosome, X linked recessive Progressive muscle ewakness, first seen in voluntary muscles followed by involuntary muscles. Pseudohypertrophy of calf, Regression of motor skills, Dilated cardiomyopathy, Gowers sign, contractures, ADHD, Dyslexia

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