conditions we treat
Our genes help make us unique. Inherited from our parents, they go far in determining our physical traits — like eye color and the color and texture of our hair. They also determine things like the amount of oxygen blood can carry, and the likelihood of getting certain diseases.
Our genetics specialists see patients of all ages, children and adults, at any time in the lifecycle and with any of the following concerns:
a- b- c- d- e- f- g- h- i-j- k- l- m- n- o- p- q-r- s- t- u- v- w- x-y-z
- 22q deletion syndrome
- Achondroplasia
- Adrenoleukodystrophy
- Alagille syndrome
- Albinism
- Alpha-1 Antitrypsin Deficiency
- Alpha thalassemia
- Alport syndrome
- Aneuploidy
- Angelman syndrome
- Aortopathy
- Arrhythmia
- Arrhythmogenic right ventricular dysplasia/cardiomyopathy
- Ataxia telangiectasia
- Autism
- Bardet-Biedl Syndrome
- Beckwith Wiedemann syndrome
- Beta thalassemia
- Biotinidase deficiency
- Birt Hogg Dube syndrome
- Birth defects
- Branchiootorenal spectrum disorder
- Brain malformations
- Brugada syndrome
- Campomelic dysplasia
- Canavan disease
- Cardiofaciocutaneous syndrome
- Cardiomyopathy
- Charcot-Marie-Tooth disease
- CHARGE syndrome
- Chondrodystrophy
- Chromosome disorder
- Chronic Granulomatous Disease (CGD)
- Cleft lip/Cleft palate
- CLOVES syndrome
- Coffin-Lowry syndrome
- Coffin-Siris Syndrome
- Congenital anomaly
- Congenital adrenal hyperplasia
- Congenital central hypoventilation syndrome
- Congenital disorders of glycosylation (CDG)
- Congenital heart defects
- Cornelia de Lange syndrome
- Costello syndrome
- Craniosynostosis
- Cystic fibrosis
- Deformity, congenital
- Developmental delay
- Diastrophic dysplasia
- Diamond-Blackfan Anemia
- Dilated cardiomyopathy
- Down syndrome
- Dravet syndrome
- Duchenne muscular dystrophy
- Dyskeratosis congenita
- Dystonia
- Dystrophinopathies
- Ehler-Danlos syndrome
- Epidermolysis bullosa
- Emanuel syndrome
- Emery-Dreifuss Muscular Dystrophy
- Fabry disease
- Factor V Leiden thrombophilia
- Familial adenomatous polyposis (FAP)
- Familial dysautonomia
- Familial hemiplegic migraine
- Familial hypercholesterolemia
- Familial mediterranean fever
- Family history of genetic disease
- Fanconi Anemia
- Fetal alcohol spectrum disorders
- FH Tumor predisposition syndrome
- Fragile X syndrome
- Friedreich ataxia
- Fumarate hydratase deficiency
- G6PD deficiency
- Galactosemia
- Gaucher disease
- Genetic cervical spine conditions
- Glycogen Storage Diseases
- Hearing loss (conductive, mixed, neural, perceptive, sensorineural)
- Hemophilia A
- Hemophilia B
- Hemihyperplasia or hemihypertrophy
- Hereditary arrhythmias
- Hereditary ataxia
- Hereditary breast ovarian cancer (HBOC)
- Hereditary dystonia
- Hereditary hemochromatosis
- Hereditary hemorrhagic telangiectasia
- Hereditary pheochromocytoma paraganglioma
- Hereditary retinoblastoma
- Holt-Oram syndrome
- Hunter syndrome (Mucopolysaccharidosis Type II)
- Hurler syndrome
- Huntington disease
- Hypermobile Ehlers-Danlos Syndrome
- Hypertrophic cardiomyopathy (HCM) and other hereditary cardiomyopathies
- Hypochondroplasia
- Hypohidrotic ectodermal dysplasia
- Hypophosphatasia
- Joint hypermobility syndrome (benign)
- Joubert syndrome
- Juvenile polyposis syndrome
- Kabuki syndrome
- KCNB1-related disorders
- KCNC1-related disorders
- KCNQ2-related epilepsies
- Klinefelter syndrome
- Krabbe disease
- Legius syndrome
- L1 Syndrome
- Li-Fraumeni syndrome
- Limb differences
- Loeys-Dietz syndrome
- Long QT syndrome
- Lynch syndrome
- Malignant hyperthermia susceptibility
- Maple syrup urine disease
- Marfan syndrome
- MCAD deficiency
- MELAS
- MERRF
- Metaphyseal chrondrodysplasia
- Miller dieker syndrome
- Mitochondrial disorder
- Multiple endocrine neoplasia types I and II
- Multiple epiphyseal dysplasia
- MUTYH Associated Polyposis (MAP)
- Myotonia congenita
- Myotonic dystrophy
- Nail-Patella syndrome
- Neurofibromatosis
- Newborn screen, abnormal test
- Noonan syndrome
- Oral-Facial-Digital syndrome
- Osteogenesis imperfecta
- OTC deficiency
- Pallister-Killian syndrome
- Pancreatitis, hereditary
- PCDH19-epilepsy
- Peutz-Jeghers syndrome
- Pendred syndrome
- Phelan-McDermid syndrome
- Phenylketonuria (PKU)
- Periodic paralysis, hypokalemic and hyperkalemic
- Polycystic kidney disease
- Pompe disease
- Porphyria
- Prader-Willi syndrome
- Primary ciliary dyskinesia
- Prothrombin-related thrombophilia
- Proteus syndrome
- PTEN hamartoma tumor syndrome
- RASopathies
- Russell-Silver syndrome
- Robinow syndrome
- Russell Silver syndrome
- Sanfilippo syndrome
- SCN2A-related disorders
- SCN3A-related neurodevelopmental disorders
- SCN8A-related epilepsy
- Schwannomatosis
- Sickle cell disease
- Smith-Lemli-Opitz syndrome
- Smith-Magenis syndrome
- Sotos syndrome
- Spastic paraplegia
- Spina bifida and myelomeningocele
- Spinal muscular atrophy
- Spinocerebellar ataxia
- Spondyloepiphyseal dysplasia (SED)
- Stickler syndrome
- Sturge-Weber syndrome
- STXBP1-related disorders
- Tay Sachs disease
- Townes-Brocks syndrome
- Translocation
- Tyrosinemia
- Treacher Collins syndrome
- Triple X syndrome
- Tuberous sclerosis
- Turner syndrome
- Urea cycle disorders
- Usher syndrome
- VATER VACTERL
- VLCAD deficiency
- von Willebrand disease
- Von Hippel Lindau disease
- Waardenburg syndrome
- Williams syndrome
- Wilson disease
- Wiskott-Aldrich syndrome
- WT1-related Wilms Tumor predisposition
- Xeroderma pigmentosum
- XYY
- Zellweger syndrome
