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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