Syndromes

Screening Questions
Genetics Web Resources
General approach & Management to Inborn Errors
Chromosome Associations
Newborn Screen
Unusual Odors

Achondroplasia
Adrenoleukodystrophy
Advanced paternal age
Alagille Syndrome
Alport
Angelman
Apert Syndrome
Ataxia telangiectasia
Bloom syndrome
Beckwith-Wiedemann
CATCH 22
CHARGE
Cornelia de Lange
Cri-du-Chat (5p-)
Crouzon Syndrome
Cystinosis
Cystinuria
Denys-Drash
Diamond-Blackfan Anemia
DiGeorge
Down Syndrome
Dyskeratosis Congenita
Edwards (Trisomy 18)
Ehlers-Danlos
Evans Syndrome
Fanconi's Anemia/Pancytopenia
Fanconi Syndrome
Galactosemia
Glycogen Storage Diseases
Goldenhaar syndrome
Hartnup's Disease
Homocystinuria
Hunter/Hurler syndromes
Incontinentia Pigmenti
Job's Syndrome
Kallman syndrome
Kartagener syndrome
Klinefelter
Laurence-Moon-Biedl
Lesch-Nyhan
Leukodystrophies
Lipidoses
LEOPARD
Maple Syrup Urine disease
Marfan
McCune Albright
MEN/MEA types I,II,III
Methylmalonic Acidemia
Mitochondrial Disorders
Moebius Syndrome
Mucopolysaccharidosis
Neurofibromatosis Type I
Neurofibromatosis Type 2
Noonan Syndrome
Osler-Weber-Rendu (Hereditary hemorrhagic telangiectasia)
Osteogenesis Imperfecta
OTC deficiency
Patau (Trisomy 13)
Pfeiffer Syndrome
PHACES
Phenylketonuria
Pierre-Robin Sequence
Prader-Willi
Poland anomaly
Proteus syndrome
Prune Belly Syndrome
Rett’s syndrome
Rubinstein-Taybi Syndrome
Russell-Silver
Sandifer
Schwachman-Diamond
Shprintzen (velocardiofacial)
Smith-Lemli-Opitz
Soto syndrome
Stickler Syndrome
Sturge-Weber
Takao
TAR syndrome
Tay-Sachs Disease
Treacher-Collins
Trisomy 13 (Patau)
Trisomy 18 (Edwards)
Trisomy 21 (Down)
Tuberous Sclerosis
Turner
VATER/VACTERLS
Velocardiofacial (Shprintzen)
Waardenburg Syndrome
West Syndrome
Williams Syndrome
Zellweger