Genetic conditions  
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Absence of incisors

Absence of macula lutea

Acatalasia

Acholuric jaundice

Achondroplasia

Acrodermatitis entropathica

Adherent ear lobes

Afribrinogenaemia

Agammaglobinaemia

Agenesis of lungs

Albinism

Oculocutaneous albinism (oculocutaneous)

Alkaline phosphate deficiency

Alkaptonuria

Alopecia areata

Amelia

Anencephaly

Angioneurotic oedema

Anidrotic ectodermal dyspahsia

Aniridia

Anomalies of the iris

Anomalous left cornary artery

Anomalous left pulmonary artery

Anonychia

Anophthalmos

Anotia

Aorto-pulmonary window

Apical dystrophy of fingers

Aplasia cutis congenita

Arachnodactyly

Argininosuccinic aciduria

Arthrogryposis multiplex congenita

Atheroma

Atheroma

Atopic disease allergy

Atresia of small intestine

Atrial septal defect- ostium primum

Atrial septal defect- ostium secundum

Auditory nerve atrophy

Benign cystic epithelioma

Bicornuate uterus

Biliary tract atresia

Biloculare

Blue or grey eyes

Brachydactyly

Brachymorphia with spherophakia

Branchial cyst

Branchial fistula

Bullous eruption of feet

Buphthalmos (congenital glaucoma)

Canities praematura

Carnosinaemia

Cataract

Choanal atresia

Cholinesterase control

Cholinesterase control

Choroideraemia

Christmas disease

Chronic granulomatous disease

Chronic hypochromic anaemia

Citrullinaemia

Cleft palate

Cleidocranial dysostosis

Club foot

Congenital inguinal hernia

Coloboma

Congenital cataract

Congenital constriction bands

Congenital contraction of little finger

Congenital exstrophy of urinary bladder

Congenital intestinal stenosis

Congenital intusscuception

Congenital laryngeal stridor

Congenital polycystic kidneys

Congenital porphyria

Congenital diaphragmatic hernia

Congenital femoral hernia

Coronary arteriosclerosis

Cranial meningocoele

Cretinism (goitrous)

Criggler-Najjar syndrome

Cryptorchidism

Curly straight, wavy hair in Europeans

Cyclopia

Cystathioninuria

Cystinosis

Cystinuria

Cystinuria

Darier’s disease

Dark brown eye colour

Deaf-mutism

Deep acetabulum of pelvis

Defective enamel of teeth

Defective enamel of teeth

Diabetes insipidus

Diabetes insipidus

Diabetes mellitus

Diaphyseal aclasis

Disseminated sclerosis

Duodenal atresia

Dysmelia

Dystrophic epidermolysis

Ebstein’s anomaly

Ectopic kindeys

Ehler’s Danlos syndrome

Elliptocytosis

Encephalocoele

Epicanthus

Epidermolysis bullosa

Epilepsy

Epiloia

Epispadias

Erythraemia

Essential hypertension

Exomphalos

Facio-scapulo-humeral muscular dystrophy

Fanconi’s syndrome

Fibrocystic disease (cystic fibrosis) of pancreas

Flattened acetabulum

Freesia

Friedreich’s ataxia

Fructosuria

Fundus dystrophy

Fusion of deciduous teeth

Galactosaemia

Galactosaemia

Gastroschisis

Gaucher’s disease

Glaucoma

Glucose 6 phosphate dehydrogenase deficiency

Glucose-6-phosphatase deficiency

Gout

Gout with hypercorticaemia

Grave’s disease

Habsburg jaw

Haemochromatosis

Haemophilia

Haemophilia A

Haemorrhagic telengectasia

Hairy ears

Haptoglobulin-1

Haptoglobulin-2

Hare lip with or without cleft palate

Hartnup disease

Heberden’s nodes

Hereditary nephritis

Hereditary telactectasia

Hirschprung’s disease

Histidinaemia

Homocystinuria

Horse-shoe kidney

Huntington’s chorea

Hurler’s syndrome

Hurler’s syndrome

Hydocephalus

Hydranencepahly

Hydroxyprolinaemia

Hypercalcuria

Hyperlysinaemia

Hyperoxaluria

Hyperphosphatasia

Hypersacosinaemia

Hypersarcosinaemia

Hypertelorism

Hypervalinaemia

Hypervalinaemia

Hyper-β-alaninaemia

Hypophosphataemia

Hypophosphatasia

Hypoplastic left ventricle

Hypoprolinaemia

Hypoprolinaemia

Hypospadias

Ichthyosis congenita

Ichthyosis vulgaris

Ichthyosis vulgaris

Imperfect ossification of membrane bones

Imperforate anus

Incomplete albinism

Infantile amaurotic idiocy

Isovaleric acidaemia

Juvenial amaurotic idiocy

Keratodermia

Labyrinthine deafness

Lachrymal duct stenosis

Large intestinal atresia

Laryngeal atresia

Lawrence–Moon-Biedl syndrome

Leber’s disease

Left heart syndrome

Lesch-Nyhan syndrome

Lipoid proteinosis

Lipoidosis of skin

Lymphoedema

Macula coloboma

Male sex determination

Mandibulo-facial dysostosis

Mandibulo-facial dystostosis

Marfan’s syndrome

Marie’s cerebellar ataxia

McArdle’s syndrome

Meckel’s diverticulum

Melotia

Metatarsus varus

Methylmalonic aciduria

Microcephaly

Microcornea

Micromelia

Microphthalmos

Midphalaceal hair

Mild dystrophic epidermolysis

Minor rachydactyly

Missing incisors

Mitral atresia or stenosis

Monilethrix

Morquio’s disease

Multicystic kidney

Multiple cystic adenoma

Multiple polypi of colon and rectum

Multiple sebaceous cysts

Muscular agenesis

Muscular dystrophy of childhood

Nasal sinus infection (extreme)

Nephrogenic diabetes insipidus

Nephrosclerosis leading to essential hypertension

Neurofibromatosis leading to malignancy

Night blindness

Night blindness with myopia

Night blindness with myopia

Non-ketotic hyperglycinaemia

Nystagmus

Nystagmus

Oesophageal atresia

Oguchi’s disease

Oligophrenia

Omphalocoele

Opalescent dentine

Optic nerve atrophy

Optic nerve atrophy

Orotic aciduria

Osler’s disease

Osteoarthritis

Osteochondrodystrophia

Osteochondrodystrophia

Osteogenesis imperfecta

Otosclerosis

Ovalocystosis

Oxalosis

Paralysis agitans

Paraphimosis

Patent ductus arteriosus

Pelger’s anomaly

Pentosuria

Periodic familial paralysis

Periodicarthralgia

Pernicious anaemia

Persistent foramen ovale

Persistent truncus arteriosus

Perthe’s disease

Peutz-Jagher’s syndrome

Phalangeal synostosis

Phenylketonuria

Phenyl-thio-urea taster/non taster

Phimosis

Phocommelia

Piebalding

Pierre-Robin syndrome

Pityriasis rubra pilaris

Polycystic kidney

Polydactyly

Polydactyly

Porencephaly

Porokeratosis

Porphyria

Poseriro urethral valves

Premature baldness

Progressive ophthalmoplegia

Proprioic acidaemia

Prun-belly syndrome

Pseudoxanthoma elasticum

Psoriasis

Ptosis

Radial club deformity

Radial loop on hypothenar area

Radial loop on thenar area

Rectovaginal fistula

Red hair

Red skin trait

Red-green colour blindness

Renal agenesis

Renal glycosuria

Renal tubular acidosis

Retinitis pigmentosa with deafness

Retinitis pigmentosa without deafness

Retinitis pigmentosa without deafness

Retinitis pigmentosa without deafness

Retinoblastoma

Rheumatoid arthritis

Sarple syrup disease

Secretor factor

Septate uterus

Septate vagina

Sickle cell anaemia

Simple epidermolysis

Slow inactivation of isoniazid

Spastic paraplegia

Spastic paraplegia

Spherocytic anaemia

Spina bifida

Spina bifida

Spina bifida

Split hand and foot

Squint

Sulphituria

Supernumerary teeth

Symphalangism

Syndactyly

Syrenomelia

Talipes calcaneovalgus

Talipes calcaneovarus

Talipes equinovalgus

Talipes equinovarus

Talipes valgus

Testicular agenesis

Tetralogy of Falot

Thalassaemia

Thyroglossal cyst

Total anomalous pulmonary venous drainage

Total colour blindness

Tracheal atresia with stenosis

Transposition of the great vessels

Tricuspid stenosis

Triloculare

Tuberous sclerosis

Tylosis palmaris and plantaris

Tyrosinosis

Unicornanuate uterus

Uterine agenesis

Uterine didelphis

Uterine hypoplasia

Vaginal atresia

Ventricular septal defect

Vesicaovaginal fistula

Vitamin D resistant rickets

Vitellointestinal cyst

Von Willebrand’s disease

Waardenburg’s syndrome

White forelock (only in males)

Wilson’s disease

Woolly hair in a European

Xanthinuria

Xanthomatosis

Xeroderma pigmentosa

Xeroderma pigmentosum

Β-metacaptolactate-cysteine disulphiduria

 

 

 

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