Genetic Syndromes in Children | A-Z Library


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.








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, 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 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 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

Name Genotype Phenotype Issues
Edwards Syndrome 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
Ehlers–Danlos syndrome 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 Joints -hypermobility, SKin -Stretchy, velvety soft, hyperelastic, easy scaring, CVS - thoracic outlet syndrome, POTS, Raynaud's phenomenon, Other - Hiatus hernia, GER, spontaneous pneumothorax, Arnold Chiari malformation,
Emery Dreifuss muscular dystrophy Mutations in the EMD, LMNA, and other genes. X linked recessive (commonest), AD, AR (rare) 3rd most common form of muscular dystrophy, Triad of muscle weakness, joint contracture, and cardiomyopathy Muscle - weakness in muscles of the arms, legs, face, neck, spine, and heart, cardiac - bradycardia, tachycardia, arrhythmias, heart block.
Epidermolysis bullosa AD, AR, 3 types epidermolysis bullosa simplex (EBS - most common), dystrophic epidermolysis bullosa (DEB), junctional epidermolysis bullosa (JEB) lack of protein keeping dermis and epidermis together and prevent them from moving independently skin which blisters, blisters in the oral cavity, blisters on the hands and feet, scarred skin, thick skin, and nail

Name Genotype Phenotype Issues
Fanconi Anaemia AR, occasionally XLR. 21 FA genes involved in DNA repair identified so far. Microphthalmia and microcephaly are frequently associated Hematological abnormality - macrocytosis or megaloblastic anemia, pancytopenia,(Remember ! Diamond–Blackfan anemia affects - erythrocytes, Shwachman–Diamond syndrome affects - neutrophils) Myelodysplastic syndromes, and acute myeloid leukemia, infertility in males
Fabry disease X linked lysosomal storage diseases causing deficiency of Alpha galactosidase Angiokeratoma, Cornea verticillata or vortex keratopathy - whorl-like cornea Heart - restrictive cardiomyopathy, heart blocks. Skin -Painless Angiokeratomas. Eyes - vortex keratopathy. Kidney -chronic kidney disease due to proteinuria. Neurological - neuropathy, burning extremities, elevated pain sensations
Familial adenomatous polyposis AD, APC gene Adenomatous polyps in the large intestine, Bleeding PR, anemia, Malignant transformation of polyps