neonatal macrosomia, macroglossia, tall stature, horizontal ear lobe crease, small pits behind helix of ear, organomegaly, midline abdominal wall defects (omphalocele/umbilical hernia/diastasis recti), Facial naevus flammeus, neonatal hypoglycaemia, acclerated growth and bone maturation, hemihypertrophy, wilms tumor, Diaphragmatic eventuration

Tall stature, Thin (marfanoid body habitus), Arm span> height, Long limbs (dolichostenomelia), Arachnodactyly, Thumb/Steinberg’s sign, Wrist/Walker-Murdoch sign, Recurrent dislocation i.e. joint laxity, Pectus excavatum/carinatum, Kyphoscoliosis, High-arched palate, Upward ectopia lentis, Myopia, secondary glaucoma, retinal detachment, Strabismus, Dilatation of aortic root with or without dissecting aneurysm of the ascending aorta, Mitral valve prolapse, Aortic regurgitation

Cortical tubers, Ungual fibromas, White matter bands, Eye retinal phakoma, Renal angiomyolipomas/cysts, Oncocytoma, Shargreen patches, Cardiac rhabdomyoma, Subependymal giant cell astrocytoma, Lymphangioleiomyomatosis, Subependymal nodules, Eye colobomas, Cutaneous Ash leaf spots, Osseous lesions, Scoliosis, Intestinal polyps, Seizures, Infantile spasms, Mental retardation

Acropcephaly, Craniosynostosis, Flat flacies, maxillary hypoplasia, hypertelorism, down-slanting palpebral fissures, shallow orbits, low-set ears, syndactyly, mental retardation, limited joint mobility, Heart defect, increased ICP, optic atrophy, hearing loss

Short stature, Low posterior hairline, Short webbed neck, Broad chest, Widly spaced, hypoplastic nipples, Narrow maxilla, Small mandible, Cubitus valgus, Congenital lymphedema with residual puffiness, Narrow, hyperconvex, deep set nails / kolionychia, Premature ovarian failure with delayed puberty, High arched palate, Short 4th/5th metacarpals/metatarsals, Horseshoe kidney, Bicuspid aortic valve, coarctation of aorta, valvular aortic stenosis, Gonadal dysgenesis, Type 2 diabetes mellitus, Autoimmune thyroiditis, Inflammatory bowel disease, Osteoporosis, Glue ear, sensorineural hearing loss, Hypertension

Symmetrical facial anormalies, Downward slanting palpebral fissures, Lower lid coloboma, Absence of lower eyelashes, Malar hypoplasia, Mandibular hypoplasia, Dysplastic auricles often with skin tags or sinuses, External ear canal defects, Cleft palate, Conductive and sensorineural hearing loss

Short stature, Epicanthal folds, Downward slanting palpebral fissures, Ptosis, Mild hypertelorism, Deeply grooved philtrum, Low set posteriorly rotated ears, Short webbed neck, Trident hairline (low posteriorly), Anterior dental malocclusion, Pectus excavatum or carinatum, Shield chest, Cubitus valgus, Small penis, cryptorchidism, Occasional edema of dorsum of hands and feet, Mild mental retardation, Congenital heart disease – PS, ASD, septal hypertrophy, Vertebral anomalies, Triangular face , Widely spaced nipples

Happy appearance, inappropriate laughter, Ataxia, jerky movements (puppet gait), microbrachycephaly, deep set eyes, maxillary hypoplasia, pronagthism, tongue protrusion, widely spaced teeth, hypotonia, growth retardation, mental retardation, optic atrophy, seizures

Macrocephaly, Frontal bossing, Midface hypoplasia, Dysproportional short stature, Flat nasal bridge, Rhizomeila, Extreme joint laxity, Trident fingers, Long narrow trunk, Small, narrow chest, Brachydactyly, Bow legs, Incresased lumbar lordosis, Spine gibbus (vertebral collapse resulting in kyphosis), Delayed motor development, Small foramen magnum, Obstructive sleep apnoea, Pulmonary hypertension

Micrognathia, U-shaped cleft soft palate, Congenital heart disease, Feeding problems, Glossoptosis, Airway obstruction

Short stature, Small triangular face, Thin lips, Clinodactyly, Syndactyly of 2nd and 3rd toes, Skeletal asymmetery , Hemihypertrophy, Striking lack of subcutaneous fat, Cafe au lait spots, Severe intrauterine growth restriction, Feeding difficulties, Hypoglycaemia, Excessive sweating as a baby, Precocious puberty

Macrocephaly, Frontal bossing, Coarse facies, Wide, anteverted nostrils, Flat nasal bridge, Large tongue, Enlarged lips, Short stature, Claw hand, Hernias, Deafness, Extensive Monglian spots

Obesity, Almond shaped eyes, Prominent forehead with narrow bifrontal diameter, Triangular shaped upper lip, Hypogonadism, Short stature, Small, puffy hands and feet, Hypotonia, Mental retardation, Hyperphagia, Diabetes mellitus, Behavorial difficulties: temper tantrums, obsessional traits, Hypothyroidism, Central adrenal insufficiency, Obstructive sleep apnoea, Orthopaedic problems

Short stature, Prominent forehead/ frontal bossing, Deep set eyes, Hypertelorism, Peripheral pulmonary stenosis, Obstructive jaundice, Butterfly vertebrae, Rib anomalies, Intrahepatic bile duct paucity, Renal anormalies, Vascular anormalies, Mental retardation, Prominent nasal bridge

Hypertelorism, Short philtrum, Micrognathia, Down-slanting palpebral fissures, Ear anomalies, e.g. notch in pinna, hypoplasia of auricle, Prominent nasal bridge, Hypoplastic wings of nose, Cardiac defects: interrupted aortic arch/ conotruncal defect, Thymic hypoplasia causing T-cell deficiency, Hypoparathyroidism; hypocalcaemia, Mild mental retardation, high risk of schizophrenia, Cleft palate

Short stature, Hypotonia, Mental retardation, Atlantoaxial instability, Congenital heart disease: endocardial cushion defect > VSD > PDA, ASD; also MVP, Duodenal atresia, Increased risk of AML, T1DM, Coeliac disease, Obstructive sleep apnoea, Early onset Alzheimer's disease, Recurrent otitis media, Hearing loss

Craniosynostosis, Proptosis, Conductive hearing loss, Normal intelligence, Chiari malformation and hydrocephalus, Raised ICP, Optic atrophy, Seizures

Phocomelia, Hypoplastic radius +/- ulnar, Carpal bone abnormality, Hypoplastic thumbs or triphalangeal thumbs, Defects of ulnar, clavicle, scapula, sternum, Cardiac defects – ASD/ VSD, some have conduction defects => bradycardia, Absent pectoralis major, Pectus excavatum, Vertebral anomalies

Coloboma, CNS abnormalities, Heart defect, Atresia Choanae, Retarded growth/development, Ear anormalies (lop ears), Hearing loss/ deafness, CN VII palsy, Mental retardation, Genital anormalies

Craniosynostosis, Brachycephaly, High full forehead, Hypertelorism, Up-slanting palpebral fissures, Small nose with low nasal bridge, High-arched palate, Broad distal phalanges of thumb and first toe, Choanal atresia, Mental retardation, Seizures, Hearing loss

Macrocephaly, Frontal bossing, Coarse facies, Corneal clouding, Wide anteverted nostrils, Flat nasal bridge, Large tongue, Enlarged lips, Short stature, Claw hand, Hernias, Deafness

Short stature, Elfin features, Stellate iris, Periorbital fullness, Flat nasal bridge, Small mandible, Broad maxilla and prominent cheeks, Full nasal tip, Anteverted nares, Long smooth philtrum, Partial anodontia and enamal hypoplasia, Malocclusion, Mental retardation, Cocktail personailty, Neonatal hypercalcaemia, Congenital heart disease- supravalvular aortic stenosis, Hyperacusis, Renal artery stenosis, Hypertension, Type 2 diabetes mellitus, Decreased bone mineral density

Brachycephaly, microcephaly, Hypertelorism, Epicanthal folds, Brushfield spots, Increased lens opacity, Up-slanting palpebral fissure, Flat nasal bridge, Small mouth, protruding tongue, Hypoplastic teeth, Small, low-set ears, Sparse hair, Simian crease, Palmar triradius, Short metacarpals, Short digits, Hyperkeratotic skin over time, Clinodactyly of 5th digit, Ulnar dermal ridge on all fingers, Plantar crease between 1st and 2nd toe, Sandal gap, Cutis marmorata

Characteristic Cat like cry, Low birth weight, Feeding difficulties, Poor growth, Severe cognitive, speech and motor delay, Behaviour problems: hyperactivity, aggression tantrums, Hypotonia, Microcephaly, Hypertelorism, Epicanthic folds, Down-slanting palpebral fissures, Strabismus, Flat nasal bridge, Down-turned mouth, Micrognathia, Low-set ears, Short fingers, Simian crease, Congenital heart disease, Mental retardation

Dextrocardia, Situs inversus, Thick nasal secretions, Chronic sinusitis, Recurrent Otitis Media, may have grommets, Bronchiectasis, Cardiac anomalies, Abnormal neutrophils chemostaxis, Sterility in males due to sperm immotility, Conductive hearing loss, Anosmia

Tall stature, Obesity, Absent 2nd sexual characteristics, Anosmia, Occasional cleft lip/palate, choanal atresia, deafness, Mild to moderate mental retardation, Congenital renal anomalies and ichthyosis, Increased risk of testicular tumors, Isolated gonadotrophin deficiency (hypogonadotrophic hypogonadism)

Large head with prominent forehead, Long thin face, Pale blue irides, Thickening of nasal bridge, Large ears; may be posteriorly rotated, Prominent jaw, Large testes (macroorchidism), Hypotonia, Joint laxity, Characteristic speech ‘cluttering’, Hyperkinetic behavior i.e. hyperactivity, Mental retardation, Motor, language developmental delay, Seizures, Mitral valve prolapse, Strabismus, Midface hypoplasia with sunken eyes