Rare Disease List
Aspect Health is developing guides to each of these rare diseases.
Updated: March 31, 2020
This article was scientifically reviewed by Jessica Bucher
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A list of references is also included at the bottom of this article.
**COMPLETE
- Fabry Disease
- Klinefelter Syndrome
- Trisomy 13 (Patau Syndrome)
- Lynch Syndrome
- Neurofibromatosis (NF1, NF2)
IN PROGRESS
- Fragile X Syndrome
- Huntington's Disease
- Ehlers-Danlos Syndrome
- 22q deletion syndrome
- Marfan Syndrome
SHORT-TERM LIST
- Duchenne Muscular Dystrophy
- Batten Disease
- CHARGE Syndrome
- Angelman Syndrome
- Charcot Marie Tooth
FULL LIST (TARGETS)
- Apert syndrome
- Poland syndrome
- Treacher Collins syndrome
- Noonan syndrome
- Neural Tube Defects
- Cleft Lip/Palate
- Congenital Hydrocephalus
- Oculo-auriculo-vertebral syndrome (OAV including Goldenhar)
- Craniosynostosis
- Familial Alzheimer Disease
- CHARGE Syndrome
- Lissencephaly
- VACTERL
- Sturge Weber
- Pierre Robin sequence
- Holoprosencephaly
- Chromosome Conditions
- 22q deletion Syndrome
- Trisomy 21 (Down Syndrome)
- 16p11.2 deletion Syndrome
- Trisomy 18
- Trisomy X (Triple X)
- XYY Syndrome
- XYY Syndrome
- XXX syndrome
- Fragile X Syndrome
- 4p- (Wolf-Hirschhorn)
- 5p- (Cri-du-Chat)
- 16p13.11 deletion syndrome
- Metabolic Conditions
- Galactosemia
- Congenital DIsorders of Glycosylation
- Porphyria
- Biotinidase Deficiency
- OTC deficiency
- Primary Carnitine Deficiency
- Glycogen storage disease
- Homocystinuria
- Gaucher disease
- Phenylketonuria (PKU)
- MCAD
- Smith-Lemli-Opitz
- Maple Syrup Urine Disease
- Mucopolysaccharidoses
- Tay-Sachs disease
- Congenital Hypothyroidism
- Tyrosinemia
- Homocystinuria
- Isovaleric Acidemia
- angelman Syndrome
- Hereditary Fructose Intolerance
- Mucolipidosis
- Connective Tissue Disorders
- Ehlers-Danlos Syndrome (All Types?)
- Osteogenesis Imperfecta
- Marfan syndrome
- Loeys Dietz syndrome
- Epidermolysis Bullosa
- X-linked ichthyosis
- Hypohidrotic ectodermal dysplasia
- Cardiac Arrhythmias
- Brugada syndrome
- Familial Dilated Cardiomyopathy
- Long QT Syndrome
- Immunological Conditions
- Lupus
- Sjogren Syndrome
- Hereditary Angioedema
- Agammaglobulinemia
- Chronic Granulomatous Disease
- Wiskott-Aldrich Syndrome
- Severe Combined Immune Deficiency
- Cancer Syndromes
- MEN1
- Peutz-Jeghers syndrome
- MEN2
- Hereditary Diffuse Gastric Cancer
- Retinoblastoma
- Hereditary Breast and Ovarian Cancer syndrome
- Lynch syndrome (HNPCC)
- PTEN
- FAP/AFAP
- Von Hippel-Londau Syndrome
- Li-Fraumeni
- Nervous System Conditions
- Neurofibromatosis (Type 1 and 2)
- Tuberous sclerosis
- Batten Disease
- Huntington Disease
- Lennox- Gastaut syndrome
- Hereditary Neuropathy with Liability to Pressure Palsies
- Familial Cerebral Cavernous Venous Malformation
- Miller Dieker Syndrome
- Walker-Warburg
- X-linked adrenoleukodystrophy
- Ocular Conditions
- Oculocutanous albinism
- Duane syndrome
- Retinitis Pigmentosa
- Stargardt Disease
- Septo-optic dysplasia
- Leber Congenital Amaurosis
- Usher Syndrome
- Stickler Syndrome
- Lowe Syndrome
- Wilson Disease
- Micro-ophthalmia-anophthalmia coloboma
- Neuromuscular Conditions
- Charcot Marie Tooth
- Duchenne/Becker Muscular Dystrophy
- Spinal Muscular Atrophy (SMA)
- Amyotrophic Lateral Sclerosis (ALS)
- Facioscapulohumeral Muscular Dystrophy
- Hereditary Spastic Paraparesis (HSP)
- Joubert Syndrome
- Friedreich Ataxia
- Myotonic dystrophy
- Hematological Disorders
- Sickle Cell Anemia
- Hemophilia A, B, C
- Von Willebrand Disease
- Bernard-Soulier Syndrome
- Glanzmann Thrombasthenia
- Alpha Thalassemia
- Beta Thalassemia
- Inherited Vascular Abnormalities
- Hereditary Hemorrhagic Telangiectasia
- Mitochondrial Diseases
- Leigh disease
- MELAS
- Skeletal Dysplasias
- Achondroplasia
- Hypochondroplasia
- Multiple Epiphyseal Dysplasia
- Arthrogryposis
- Imprinting Disorders
- Angelman Syndrome
- Prader-Willi Syndrome
- Beckwith-Wiedemann Syndrome
- Russell-Silver Syndrome
- Developmental Differences
- Williams Syndrome
- Wolf-Hirschorn syndrome
- Mowat Wilson syndrome
- Rett Syndrome
- Kabuki syndrome
- Cornelia de Lange
- Aicardi-Goutieres syndrome
- Coffin Lowry syndrome
- Rubinstein-Taybi
- Fryns syndrome
- Overgrowth Syndromes
- Sotos Syndrome
- Differences in Sexual Development
- Kallmann syndrome
- Congenital Adrenal Hyperplasia
- Other
- hypohidrotic ectodermal dysplasia
- Hereditary amyloidosis
- Cystic Fibrosis (including CBAVD)
- Alagille Syndrome
- Pendred Syndrome
- Primary Ciliary Dyskinesia
- Waardenburg Syndrome
- Epidermolysis Bullosa
- Alport syndrome
Free Patient Handout PDF from our Experts
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