Genetic Syndromes

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SyndromeGenetic AbnormalityFacies/body habitusMedicalImage
AlagilleJagged1 or Notch 2 mutationProminent forehead; deep set eyes; moderate hypertelorism; small pointed chin; saddly nose; traingular facies.Butterfly vertebrae; biliary ducts narrow and malformed; peripheral pulmonary artery stenosis; Tetralogy of Fallot; ocular abnormalities; stroke/intracranial bleeding; dysplastic kidneys
Angelman15 maternal imprintingDevelopmental delay (severe); often non-verbal; ataxia; frequent laughter/smiling; hand-flapping movements; short attention span; microcephaly; seizures.Developmental delay (severe); often non-verbal; ataxia; frequent laughter/smiling; hand-flapping movenets; short attention span; microcephaly; seizures.
Bardet-Beidl (Laurence-Moon-Biedl)BBS genes in the basal body and ciliaTruncal obesity; polydactyly; normal facies.Retinitis pigmentosa; hypogonadism; renal failure; diabetes insipidus;diabetes mellitus; Hirschprung; anosmia
CockayneERCC8, ERCC6Microcephaly; short stature; sunken eyes; look aged.Premature aging; sensitivity to sunlight; xeroderma pigmentosum; contractures; dental caries; retinopathy; micropenis; tremors; basal ganglia calcifications; hypertension.
Cornelia de LangeCohesin complex, CDLS1, CDLS2, CDLS 3Microcephaly; long eyelashes; long philtrum; synophrys (joined eyebrows); small, wide-spaced teeth; curved 5th finger; excessive body hair.Low birth weight; developmental delay; nystagmus; GORD; seizures; CHD; cleft palate; hypoplastic genitalia.
Cri du chat5p deletionSmall head and jaw; wide eyes; skin tags in front of eyes; round face with full cheeks; hypertelorism; epicanthal folds; down-slanting palpebral fissues; flat nasal bridge; down-turned mouth; micrognathia; low-set ears; short fingers; single palmar creases.Feeding problems; high-pitched cry; poor growth; severe developmental delay; cardiac defects (VSD/ASD/PDA).
Crouzon1st branchial archCranio-facial anomalies; low set ears; cranial synostosis; brachycephaly; exophthalmos; ocular hypertelorism; psittichorhina (beak-like nose); hypoplastic maxilla.Shorter humerus and femur; Meniere's disease; strabismus; acanthosis nigricans.
Di George22q11 deletionHypertelorism; hooded eyelids; small ears and squared upper ear; small mouth, chin and side areas of tip of nose.Hypoplastic thymus; T cell deficiency; hypocalcaemia; hypoparathyroidism; learning disability; CHD (tetralogy of Fallot and conotruncal malformations); cleft palate; hearing loss.
Down21 - non-disjunction causing trisomy 21; or Robertsonian translocation (14;21)Epicanthic folds; flat nasal bridge; protruding tongue; Brushfield spots; increased space between 1st and 2nd toes; single palmar crease; short stature; low set ears; brachycephaly.Developmental delay; hypotonia; ASD/VSD; ALL; hypothyroidism; Hirschprung's; infertility; otitis media with effusion; atlanto-axial subluxation.
EdwardsTrisomy 18Microcephaly; micrognathia; cleft lip/palate; upturned nose; palpebral fissures; ocular hypertelorism; underdeveloped thumbs and nails; rocker bottom feet.Kidney malformations; VSD/ASD; omphalocele; oesophageal atresia; developmental delay; arthrogryposis; choroid plexus cysts; seizures.
GoldenharUnknownIncomplete development of ear, nose, lip and jaw.Scoliosis; hearing loss.
KlinefelterXXYNormal facies; tall stature; gynaecomastia; less body hair; broader hips.Osteoporosis, autoimmune disorders, infertile, weaker muscle strength, gynaecomastia, higher risk of breast cancer.
NoonanLinked to several genes (PTPN11, RAF1, SOS1, KRAS, NRAS, BRAF)Short stature; low hairline at the back of the neck; high hairline at the front of the head; excess skin at the back of the neck; broad forehead; ocular hypertelorism; epicanthic folds; proptosis; small, upturned nose; low set ears; deep philtrum.Pulmonary valve stenosis; hypertrophic cardiomyopathy; pectus excavatum or carinatum; joint hyperextensiblity; cryptorchidism; development delay; clotting disorders; Arnold-Chiari malformation.
PatauTrisomy 13Microcephaly; microphthalmia; polydactyly; low set ears; overlapping fingers.Developmental delay; holoprosencephaly; cataract; optic nerve hypoplasia; omphalocele; cleft palate; cutis aplasia; kidney anomalies; VSD.
Piere-Robin2, 11 or 17.Cleft palate; micrognathia; glossoptosis.Feeding difficulty; noisy breathing; GORD.
Prader-Willi15 (paternal) imprinting or deletionProminent nasal bridge; almond-shaped eyes; thin upper lip; short stature; obesity; small hands and feet;Hyperphagia; hypotonia; developmental delay; sleep apnoea; scoliosis; hypogonadism.
Russell Silver7 and 11Small, triangular face; prominent forehead; narrow chin; small jaw; down-curbing corners of the mouth.Low birth weight FTT; clinodactyly; uneven limb growth; developmental delay.
Rubinstein-TaybiCREBP geneBroad thumbs and big toes; downward slanting palpebral fissures; columella extending below the nares; talon cusps; grimacing smile; microcephaly; small mouth; high arched palate.Developmental delay; cryptorchidism; feeding difficulties; dental poblems; undescended testes; keloid scarring; increased risk with anaesthesia.
TurnerX0 or mosaicismShort stature; wide carrying angle; short, webbed neck; low hairline on neck; wide-spaced nipples; small lower jaw.Lymphoedema; coarctation of the aorta; horseshoe kidney; infertility; amenorrhoea.
Williams7 deletionSmall, upturned nose; wide mouth; full lips; small chin; widely spaced teeth; long philtrum.Developmental delay; supravalvular aortic stenosis; hypercalcaemia; low birth weight; poor growth; hypotonia; outgoing personality.
Wolf-Hirschhorn4 deletionMicrocephaly; ocular hypertelorism; downturned mouth; short upper lip; short philtrum; micrognathia; prominent glabella; dysplastic ears; preauricular skin tags.Developmental delay; cleft lip/palate; hearing impairment; seizures; hypotonia; congenital heart defects; antibody deficiencies.
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