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 |