Survey Methods: A Thoughtful Approach
Much like a kaleidoscope reflects changing patterns through multiple mirrors, the PA Rare Disease Patient Needs Assessment Survey was designed to act as a lens, capturing the intricate and ever-shifting experiences related to rare diseases in Pennsylvania.
This survey, believed to be the first statewide study of its kind in the United States undertaken by a Rare Disease Advisory Council independent of other entities, assesses the challenges and needs of those affected by rare disease disorders. It aimed to capture responses directly from rare disease patients in the Commonwealth. Recognizing the complexities and challenges faced by many rare disease patients, the survey facilitated the collection of responses from patients themselves, parents or legal guardians of those under 18 years of age with rare diseases, and family members or other advocates completing the survey on behalf of individuals with rare diseases aged 18 years and younger. The PA Rare Disease Needs Assessment Survey was developed following numerous planning and design sessions to shed light on the difficulties, challenges, and needs of Pennsylvanians affected by rare disease disorders. Former PARDAC member Dr. Connie Deline, a physician and rare disease patient herself, led the initiative in collaboration with PARDAC members, including an epidemiologist, researchers, patients, parents of patients, and physicians. The survey underwent beta-testing, received approval from the Western Institutional Review Board (WIRB), and was conducted using the HIPAA-compliant Survey Monkey platform.
The internet-based survey was conducted from September 23, 2020, through December 31, 2022. Given the challenges of promoting the survey campaign during COVID-19 and securing funding through a grant to support an awareness and marketing campaign, the Council relaunched the survey campaign in February 2022, concluding on December 31, 2022.To promote the relaunched marketing efforts, The Cullari Group, a Pennsylvania communications firm, was retained to develop and implement a statewide bilingual (English / Spanish) promotional campaign, "While You Wait ©." Their efforts included a stakeholder mapping composed of rare disease stakeholders across Pennsylvania: hospitals, caregivers, support organizations, and those delivering ancillary support to patients living with rare disease and their families. A strategic social media marketing campaign was executed. The social media channels used were Facebook, X, formerly known as Twitter, and Instagram. The marketing campaign targeted patients "while they waited" for their doctor's appointments. 62 of the 67 counties had rare disease patients or caregivers respond to the survey. Below is a map with a county-by-county breakdown of the respondents.
The PARDAC internet-based survey was distributed through the Council’s contacts, stakeholder mapping, and marketing efforts by the PARDAC.org site and its social media sites. A Rare Disease Caucus, led by bi-partisan co-chairs representing both chambers in the PA legislature, promoted the survey to the members of their caucus, promoting the survey on their social media sites and in constituent newsletters. Caucus Chairs leaders included retired members Representative Marcy Toepel, Representative Mark Longietti, and Senator John Blake, and is currently led by Senator Judy Ward (R-30), Senator Maria Collett (D-12), and Representative Barbara Gleim (R-199). Additional support came from renowned entities like NORD, EveryLife Foundation, Global Genes, healthcare providers, and media events.
At the Council's request, the Pennsylvania Health Care Cost Containment Council (PHC4), recognized for its expertise in data analysis, undertook comprehensive cleaning and primary analysis using Microsoft Excel, and Survey Monkey with HIPAA-compliant software. With a commitment to inclusivity, the Council utilized various communication channels, avoiding randomized data collection to capture the diversity of rare disease experiences. The 1,222 total responses, meticulously analyzed after excluding blank submissions, unraveled key themes and challenges. Respondents reported over 660 distinct rare diseases and variations, with 75% having a single rare disease and 15% reporting two or more. The tab below provides a listing of the rare diseases that were listed in an open-ended question. Duplications were deleted.
The demographic variables, including age, ethnicity/origin, gender, county of residence, and primary insurance type, serve as crucial markers in understanding the respondent landscape. Age categories were thoughtfully grouped to offer a comprehensive overview, while respondents shared insights into their rare diseases, contributing to the nuanced understanding of their experiences. County of residence was joined with data from the Center for Rural Pennsylvania to assign “Rural” or “Urban” designations used for analysis and primary insurance types provided additional layers to the demographic insights, adding depth to the analysis. Immerse yourself in the graphics below, offering a visual narrative of the diverse and impactful demographics captured by the survey.
Demographic variables include age, race/ethnicity, gender, county of residence, and primary insurance type. For this analysis, age categories were expanded to reduce the number of categories.
Age
"Birth to 12 months" and "1 to 5 years" were grouped as "0 to 5 years."
"6 to 10 years" and "11 to 20 years" were grouped as "6 to 20 years."
"21 to 30 years" and "31 to 40 years" were grouped as "21 to 40 years."
"41 to 50 years", "51 to 60 years", and "61 to 64 years" were grouped as "41 to 64 years."
Number of Rare Diseases
Respondents were asked to name their rare disease (s). This open-ended question allowed the participant to provide up to three responses. This question was optional.
County of Residence
County of residence was joined with data from the Center for Rural Pennsylvania to assign "Rural" or "Urban" designations used for analysis.
Primary Insurance Type
Many respondents reported more than one type of insurance. In these cases, primary insurance was assigned as follows:
- If employer-sponsored insurance was present, that was made primary and labeled as "Commercial + Secondary."
- If "self-purchased insurance" was selected, that was made primary and labeled as "Commercial + Secondary."
- If both "Medicare" and "Medicaid or other government program" were present, "Medicare + Secondary" was assigned as the primary insurer.
The graphs below represent the responses to the following questions on the survey, "What is the race/ethnicity of the person with the rare disease?" and "What is the gender identification of the person with the rare disease?"
1 copy MTHFR gene
14q12 deletion incl FOXG1 Syndrome
14th chromosome
15Q13.3 Microdeletion Syndrome
17q12 deletion
19q13.2dup
1p36 deletion syndrome
22q duplication syndrome
22q11.2 deletion syndrome
3 methylglutaric aciduria
3q microdeletion syndrome
3q29 microdeletion syndrome
47,XYY syndrome
Achalasia
Acoustic neuroma
Acromegaly
Acute Flaccid Myelitis
Acute lymphoblastic leukemia (b-cell)
Acute myeloid leukemia
Addison's Disease (Adrenal Insufficiency)
Adenoid cystic carcinoma
Adhesive Arachnoiditis
ADNP syndrome
Adrenal Insufficiency not Addison's
Adrenocortical Carcinoma
Adrenoleukodystrophy
Adult growth hormone deficiency
Adult onset colpocephaly
Leukoencephalopathy with axonal spheroids and pigmented glia
AL Amyloidosis
Albinism
Allodynia
Alpha thalassemia
Alpha-1 antitrypsin deficiency
Alport Syndrome
ALSP
AML
Amniotic Band Disease
Amyloidosis
Amyotrophic lateral sclerosis
Anal Cancer
Angelman syndrome
Angioedema Urticaria with anaphylaxis
Anhidrosis
Aniridia
Ankylosing Spondylosis
Anti-Iglon 5
Antibody Deficiency Syndrome
Antiphospholipid antibody syndrome
Antisynthetase syndrome relating to j.o.b.3
Antisynthetase Syndrome
AOSD
Aplastic anemia
Appendix cancer
Arachnoid cysts
Arachnoiditis
Arnold Chiari malformation
Arthrogryposis
Asperger's
Asplenia
Ataxia-Telangiectasia
ATP1A3 mutation
Atresia
Atrial septal aneurysm
Auto-Immune Encephalitis CASPR 2
Autoimmune Cerebellar ataxia with AntiGAD Antibodies
Autoimmune disorder
Autoimmune Hepatitis
Autoimmune hereditary hemolytic anemia
Autonomic Dysfunction (POTS)
Autosomal dominant polycystic kidney disease (ADPKD
Avascular Necrosis
AVM
Axenfeld- Rieger syndrome
Babesia
Babesiosis
Bainbridge Ropers Syndrome
Bardet Biedl Syndrome
Barth Syndrome
Bartonella
Batten CLN 6
Behcet's Disease
Benign intracranial hypertension
Benign multi cystic peritoneal mesothelioma
Beta-propeller associated neuro-degeneration
Beta-propeller protein-associated neurodegeneration
Bethlem myopathy
bh4 deficiency / PTPS
Biliary atresia
Biliary Dyskinesia with smooth muscle disorder
BPAN
Bronchiectasis
Bronchiolitis obliterans organizing pneumonia
Bronchomalacia
Brugada Syndrome
Bruton's disease (x-linked agammaglobulinemia)
Budd-Chiari (treated with liver trans)
Bullous Pemphigoid
CREST Syndrome
Cana1
Carcinoid neuroendocrine tumors
Caroli disease
CASK gene mutation
Castleman's Disease
Cauda Equina Syndrome
CBL Syndrome (Noonan Syndrome)
Celiac disease
Cellular mitosis
Central Conducting Lymphatic Anomaly (CCLA)
Central Core Disease
Central Nervous System Vasculitis
Centralized hypothyroidism
Cerebellar Ataxia nonspecific
Cerebral folate deficiency
Cervical Dystonia
Charcot arthropathy
Charcot foot
Charcot-Marie-Tooth disease
CHARGE syndrome
CHD
Chiari Malformation
Chiari malformation Type 1
Childhood Interstitial and Diffuse Lung Disease (chILD)
Cholangiocarcinoma
Choroid melanoma
Chromosomal XY variant
Chromosomal deletions and duplication
Chromosome 22q11.2 deletion syndrome
Chronic autoimmune urticaria
Chronic fatigue Syndrome
Chronic idiopathic neutropenia
Chronic Inflammatory Demyelinating Polyneuropathy
Chronic Intestinal Pseudo obstruction
Chronic Intestinal Pseudo obstruction/Intestinal Failure
Chronic Pericarditis
Chronic Recurrent Multifocal Osteomyelitis
Chronic Thromboembolic Pulmonary Hypertension
Churg-Strauss Syndrome
CIDP Chronic Immune Demyelinating Polyneuropathy
Circulating hematolymphoid neoplasm
Classic Galactosemia
CLOVES Syndrome
Cockayne Syndrome
Cold Agglutinin Disease
Cold Autoimmune Hemolytic Anemia
Cold urticaria
Common Variable Immune Deficiency
Comorbid lupus and ankylosing spondylitis
Complete Agenesis of the corpus callosum
Complex 1 mitochondrial disease
Complex Regional Pain Syndrome (CRPS), formerly RSD
Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia, salt-wasting type
Congenital brain disfunction
Congenital Disorder of Glycosylation
Congenital dyserythropoietic anemia, type 1
Congenital Myotonic Dystrophy
Cornelia de Lange syndrome
Craniocervical Instability
Craniopharyngioma
Craniosynostosis
CREST
Cri Du Chat
Crohn's
Crohn's disease
Crones
Crouzon’s Syndrome
Cryoglobulinemia
Csf leak
Ctcl
CTCL-MF lymphoma
Cushing's Disease
Cushing's Syndrome
cutaneous T-cell lymphoma/mycosis fungoides subtype
Cyclic Vomiting Syndrome
Cystic Fibrosis
Cytomegalovirus
D-bifunctional protein deficiency
D2-HGA
Dandy-Walker
DDX3X
Degenerative bone, disc, and joint at a very young age
Degenerative disc disease
Deletion 22q
Demyelinating disease
Dercum's disease
Dermatomyositis
Desmoid tumors
Desmond fibromatosis
Diabetes Insipidus
DIPNECH
Dopa responsive dystonia
Duchenne Muscular Dystrophy
Dup15q Syndrome
Duplication15q
Dysautonomia
Dysautonomia/POTS
Dystonia
EBF3 HADDS
EGPA
Ehlers Danlos Syndrome, Hypermobility type
Ehlers Danlos, gastroparesis, inter cranial hypertension, POTS
Ehlers-Danlos Syndrome
Ehlers-Danlos type 1 gene
Ehlers-Danlos Type III
Ehrlichiosis
Endometrial Stromal Sarcoma
Endometriosis
Eosinophilic Esophagitis
Epilepsy
Epstein Barr virus
Erythromelalgia
Erythropoietic Protoporphyria
Esophagus atresia
Essential Thrombocythemia
Euthyroid sick syndrome
Fabry Disease
Factor 2 thrombophilia
Factor VII Deficiency
Factor X Deficiency
Familial ALS
Familial Amyloid Polyneuropathy/Cardiomyopathy
Familial Mediterranean Fever
Familial Partial Lipodystrophy type 4- PLN1
Familial pheochromocytoma & paraganglioma
Fat2 gene defect
Fibromatosis
Fibromuscular Dysplasia
Fibromyalgia
Fibromyalgia, secondary type
Fibrosing mediastinitis
Food protein-induced enterocolitis syndrome
Friedreich Ataxia
Fructose Intolerance
Functional Neurological Symptom Disorder With Mixed Symptoms
Galactosemia
Hypogammaglobulinemia
Gastrointestinal Stromal Tumor
Gastroparesis
Gastroparesis/Wernicke encephalopathy
Gaucher Disease
Gaucher Disease Type 1
Generalized lymphatic anomaly
Giant Cell Arteritis (rare for my age)
Giant Congenital Melanocytic Nevus
Gilbert syndrome
Gillespie Syndrome
Glabrata
Glanzmann Thrombasthenia
Global GI Dysmotility
GLUT1 Deficiency Syndrome
Glutaric Acidemia Type 1
Glycogen Storage Disease
Glycogen Storage Disease Type 2 (Pompe)
Glycogen Storage Disease, Type 1a
GNE myopathy
GNE Myopathy aka Hereditary Inclusion Body Myopathy
good syndrome
Gorlin Syndrome
Granulomatosis with Polyangiitis
Granulomatous and lymphocytic interstitial lung disease
Grave's Disease
GRIN1
Grin2B
Guillian-Barre Syndrome
Hashimoto's disease
Hashimoto's Encephalopathy
HATTR-v amyloidosis
HCP Hereditary Copo Porphyria
HD hEDS
Hemochromatosis
Hemiplegic migraine
Hemiplegic migraine (scn1a mutation)
Hemochromatosis
Hemophagocytic Lymphohistiocytosis (Secondary)
Hemophilia A
Hereditary Amyloidosis TTR
Hereditary hemimorphic telangiectasia
Hereditary neuralgic Amyotrophy
Hereditary Pancreatitis
Hereditary Spasticity Paraplegia
Hermansky Pudlak Syndrome
Heterotaxy
HIDS, MVK, hyperimmunoglobulin deficiency
Hirschsprung's Disease
HIVE P2
HLRCC
Hollow visceral myopathy
Homocystinuria
Homozygous Familial Hypercholesterolemia
Horner's Syndrome
Huntington's Disease
Hydrocephalus
Hypermobility spectrum
Hyper-laxity Ehlers Danlos
Hypermobility
hypogammaglobulinemia
Hypokalemia
Hypophosphatasia
Hypoplastic Left Heart Syndrome
IBM
Idiopathic arterial pulmonary hypertension
Idiopathic hypersomnia
Idiopathic Pulmonary Fibrosis
Idiopathic Small Fiber Neuropathy
IgA and IgM deficiencies
IgA Deficiency
IgG selective subclass deficiency
IgG4 related disease
IgM deficiency
IgM Kappa MGUS
IIH
Immune Deficiency
Immune thrombocytopenic purpura
Imperforate anus
Inclusion Body Myositis
Indolent Systemic Mastocytosis
Infant botulism
Infantile spasms
Interstitial cystitis
Intercranial hypertension
Interstitial cystitis
Interstitial lung disease
Interstitial Pneumonitis
Intra cranial arachnoid cyst
Inverted 9th chromosome
Isodicentric Chromosome 15
Total parenteral nutrition
Jackhammer esophagus
Jackhammer/Corkscrew Esophagus (Full length)
JMML
Jobs syndrome
Juvenile Batten Disease
Juvenile Dermatomyositis
Juvenile Idiopathic rheumatoid arthritis
Kabuki Syndrome
Kawasaki Disease
KBG Syndrome
Keratoconus
Kidney Disease
KIF1A Associated Neurological Disorder
Klinefelter’s Syndrome
Klippel-Feil Syndrome
Klippel-Trenaunay syndrome (KTS)
KMT2E chromosomal microdeletion
L1CAM
Lamb Shaffer Syndrome
Lambert Eaton Myasthenic Syndrome
Langerhan cell histiocytosis
Laryngeal Cleft
Laryngomalacia
LCHAD
Left Ventricular Arrhythmogenic cardiomyopathy
Lennox-Gastaut Syndrome
Leprosy
Leukemia
Leukocytoclastic vasculitis
Leukodystophy
Leukodystrophy: HIKESHI associated (hypomyelinating leukodystrophy Type 13
Levoscoliosis
LGL Leukemia
LHON, and 4th is 19q13.2duplication
Li-Fraumeni Syndrome
Lichen Planopilaris
Lichen planus
Lipedema
Lipodystrophy Type 4/ LMNA-PLN1
Lissencephaly
Liver Transplant - Diagnosis: Hepatitis/Cirrosis of Unknown Origin & Immune Suppression Therapy
Loeys-Dietz type 1
Long Q-T Syndrome
Low immunoglobulin A
Lupus
Lupus Anticoagulant
Lupus erythematosus (discoid) (NOS)
Lymphangioleiomyomatosis (LAM)
Lymphatic malformation
Lymphedema
MADD adrenal tumors
Mal de Debarquement Syndrome
Malignant adenomyoephithelioma
Malignant hyperthermia
Marfan's Syndrome
Marginal zone B-cell lymphoma
Mast Cell Activation Syndrome (MMAS)
Mastocytosis
MCADD
MCAS
MCAS & Dysautonomia
McCune Albright Syndrome with polyostotic fibrous dysplasia
ME/CFS
MeCP2 duplication syndrome
Med13l
Median arcuate ligament syndrome
Medium chain acyl co a dehydrogenase deficiency
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Meniere's Disease
Meningioma
Metachromatic Leukodystrophy
Metastatic pheochromocytoma
Metastatic thyroid papillary carcinoma
Micro Anophthalmia
Micro-deletion 17p13.3
Microcephaly
Microdeletion 15q.11.2
Microdeletion of chromosome 5Q31.2
Microtia
Mitochondrial depletion
Mitochondrial Disease
Mitochondrial Disease- Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
Mitochondrial Disease: MERRF
Mitochondrial Myopathy
Mixed Connective Tissue Disease
MMN
MOGAD
Morphea En coupe de sabre
Mosaic tripling syndrome
Mowat-Wilson syndrome
Moyamoya Disease
MPGN
MRSA
Mulino Fibrosis with Jack 2 mutation
Multifocal Motor Neuropathy
Multiorgan sarcodosis
Multiple Myeloma
Multiple Sclerosis
Multiple system atrophy
Muscle eye brain disease
Myalgic Encephalomyelitis / Chronic Fatigue Syndrome
Myasthenia Gravis
Mycosis Fungoides
myelofibrosis
Myelodysplastic syndromes
Myoclonus and dystonia
Myotonic muscular dystrophy
Nager Syndrome
Nail Patella Syndrome
NAION
Narcolepsy
Narcolepsy type 2
narcolepsy with cataplexy
Necrotizing immune-mediated myopathy
Nephrocalcinosis
Nephrotic syndrome
NET Cancer of the stomach
Neurocutaneous Melanosis
Neuroendocrine tumor
Neurofibromatosis
Neurofibromatosis 1
Neurofibromatosis 2
Neuromyelitis Optica
Neuromyelitis Optica spectrum disorder
Neuropathy
Neuropathy (resulting from Immune Suppressing Drug Therapy)
Nicolaides-Baraitser Syndrome
Nodular Regenerative Hyperplasia of the liver
Nonspecific cold urticaria
Non-specified bleeding disorder
Non-Hodgkin lymphoma Noonan syndrome
Noonan Syndrome 1 LZTR1 mutation
Noonan Syndrome with Multiple Lentigines
NTM
NTM bronchiectasis
Nuero Myelitis Optica
Nutcracker Syndrome
Occipital Neuralgia
Ocular Melanoma
Ocular pemphigoid
Opsoclonus myoclonus ataxia syndrome
Organ transplant
Ornithine transcarbamylase deficiency Orthostatic Hypotension
Osteomalacia
OTC deficiency
Paget's disease
PAH
PAH class #3
Palindromic Rheumatism
pancreatic neuroendocrine tumor
PANDAS
Panhypopituitarism
Papillary carcinoma brain
Papillary carcinoma lungs
Parkinson's
PBC
PCOS
Pediatric Acute Onset Neuropsychiatric Syndrome
Pediatric cancer - neuroepithelial abdominal tumor
Pediatric Onset Multiple Sclerosis
Periodic Fever Disorder
Pernicious anemia
Peroxisomal biogenesis disorder Zellweger spectrum
Perrault syndrome
Perthes
PHACE Syndrome
Pharyngomalacia
Phelan-McDermid syndrome
Phenylketonuria
Pheochromocytoma/Adrenal Cancer
Photophobia
Phototoxic
Pitt Hopkins syndrome
Pitt Hopkins Syndrome (deletion on 18q)
Pityriasis Rubra pilaris
PLXNA3 gene mutation
PNH (Paroxysmal Nocturnal Hemoglobinuria)
Polycythemia Vera
Polymicrogyria
Polymyalgia Rheumatica
Polymyositis
Porphyria
Porphyria Cutanea Tarda
Posterior Cortical Atrophy
Posterior Uveitis
Postural Orthostatic Tachycardia Syndrome
POTS w/ hypotensive drops
PPP1CB
Presumed ocular histoplasmosis
Primary Biliary Cholangitis
Primary Biliary Cirrhosis
Primary Ciliary Dyskinesia
Primary Immune Deficiency - Common Variable Immune Deficiency
Primary Immune Deficiency IgG2 Subclass
Primary immunodeficiency
Primary Lateral Sclerosis
Primary Lymphedema
Primary Sclerosing Cholangitis
Progressive Supranuclear Palsy
Pseudotumor cerebri
Pseudohypoparathyroidism
Psoriatic Arthritis
PTEN hamaratoma tumor syndrome
PTSD Combat
Pulmonary arterial hypertension
Pulmonary Carcinoid Tumors
Pulmonary Fibrosis
Pulmonary hypertension
PVNS/TGCT
Pycnodysostosis
Pyles disease
Pyoderma Gangrenosum
Pyruvate dehydrogenase complex deficiency
Rapid onset Dystonia Parkinsonism
Raynaud's phenomenon
Recurrent Respiratory Papillomatosis
Reflex neurovascular dystrophy
Reflex Sympathetic Dystrophy
Relapsing Polychondritis
RETT syndrome
Rhabdomyosarcoma
Rheumatoid arthritis
Rheumatoid Arthritis (juvenile onset)
Rubinstein-Taybi Syndrome
S Inclusion Body Myositis
SAPHO
SATB2-Associated Syndrome
Scheuermann's Disease
Schizencephaly
Schmidt Syndrome
Schnitzler's Syndrome
Scleroderma
Scn1a/Dravet Syndrome
SCN2A
SCN8A - Related Epilepsy
SDHA Mutation
SDHB gene mutation
Secondary Adrenal Insufficiency
Selective antibody disorder
Semicircular superior canal dehiscence
Serrated Polyposis Syndrome
SETBP1
Shermans Kyphosis
SHOX Deficiency
Sick Sinus Syndrome
Sickle Cell Disease
Sifrim-Hitz Weiss
Situs Inversus
Sjogren's Syndrome
Small fiber neuropathy
Smc1a genetic mutation
Smith-Magenis Syndrome
Solar urticaria
Specific antibody deficiency
Spinocerebellar ataxia type 1 (SCA1)
Spinal Bulbar Muscular Atrophy
Spinal cord injury
Spinal cord tumor, schwannoma
Spinal Muscular Atrophy
Spinal Tarlov Aneurysms
Spontaneous intracranial hypotension
Stargardt's Disease
Steven Johnson syndrome
Stiff person syndrome
Undiagnosed
STXBP1 encephalopathy
Sub mucous cleft palate
Subglottic stenosis
Superior Mesenteric Artery Syndrome
Superior vena cava syndrome
Sweet's Syndrome
Syringomyelia
Systemic involvement of connective tissue, unspecified M35.9
Systemic Juvenile Idiopathic Arthritis
Systemic mastocytosis
Systemic Sclerosis
SYT1 mutation
Takayasu Arteritis
Tardive Dyskinesia
Tardive Dystonia
Tarlov cyst
Trachea-Esophageal Fistula (TEF)
Tethered spinal cord
Tetralogy of Fallot Absent Pulmonary Valve
Thoracic Outlet Syndrome
Thrombocytopenia
Thrombocytopenia absent radius
Thrombocytosis
Thrombotic thrombocytopenic purpura
Thymoma
Thyroid eye disease
Titez Syndrome
TKT deficiency syndrome
Tonsillar Cancer
Tracheomalacia
Transverse Myelitis
Trigeminal Neuralgia
Trisomy X
TUBB2A
Tuberous Sclerosis Complex
Turner Syndrome
Thygeson's Superficial punctate keratitis
Type 1 Gaucher Disease
Unbalanced translocation of chromosomes 6 and 21
Urea cycle disorder
Usher Syndrome
Usher Syndrome Type 2A
Ushers2A
VACTERL Association
Varicella
Vascular Ehlers-Danlos Syndrome
VATER
Vestibular schwannoma
Visual Snow Syndrome
Vitiligo
VLCAD Deficiency
Vogt-Koyanagi-Harada Disease
Von Willebrand disease
WAGR Syndrome
Waldenstrom macroglobulinemia
Wallenberg Syndrome
Washington thyroiditis
Wegener's granulomatosis
Wiedemann-Steiner Syndrome
Williams Syndrome
Wilm's tumor/Frasier syndrome mutation
Wolff Parkinson's White Pattern
Wolff-Parkinson-White (WPW) Syndrome
X-linked severe combined immunodeficiency
XLH rickets
XY chromosome variant
Zellweger Syndrome