Genetic
and Rare Conditions Site
Medical Genetics,
University of Kansas Medical Center
Lay advocacy and support groups, information on genetic
conditions /birth defects for professionals, educators, and individuals,
National and International organizations · Categories · Genetic
Counselors and Geneticists · Children and teen sites
· Advocacy · Diversity
· Spanish
sites · Other
· Suggestions · Search
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
Revised Cannot perform flastmod(): Win32 Error Code = 87
- Aarskog syndrome
- Achondroplasia
- Achromatopsia
- Acoustic neuroma (and benign cranial nerve tumors)
- Adrenal hyperplasia
- Adrenoleukodystrophy
- Agenesis of corpus callosum
- Aicardi syndrome
- Alagille syndrome
- Albinism (& (hypopigmentation)
- Alopecia areata
- Alstrom syndrome
- Alpha-1-antitrypsin deficiency
- Ambiguous genitalia
- Androgen insensitivity syndrome(s)
- Anorchia
- Angelman syndrome
- Anopthalmia
- Apert syndrome
- Arthrogryposis (amyoplasia)
- Ataxia (Friedreich ataxia, spinocerebellar
ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other)
- Autism / Asperger syndrome
- Bardet-Biedl syndrome
- Basal cell carcinoma
(Gorlin syndrome)
- Batten disease (neuronal ceroid
lipofuscinosis)
- Beckwith-Wiedemann syndrome
- Blepharophimosis
- Blind (vision anomalies)
- Brain Conditions /
Disorders
- Branchio-Oto-Renal (BOR) syndrome
- Canavan
- Cancer: (ataxia
telangiectasia, basal cell nevus, brain /spine, breast,
colon / bowel, leukemia / lymphoma, lung, melanoma
/ skin, multiple endocrine neoplasia, oral, ovarian,
pancreas, prostate, retinoblastoma,
testicular, von Hippel-Lindau, xeroderma pigmentosa)
- Cardiofaciocutaneous syndrome
- Celiac sprue (dermatitis herpiformis,
gluten intolerance)
- Charcot-Marie-Tooth (peroneal
muscular atrophy, hereditary motor sensory neuropathy)
- CHARGE association
- Chromosome anomalies - trisomy,
deletions, inversions, duplications, translocations,
4p- (Wolf-Hirshhorn), 5
(cri-du-chat, 5p-), 7, 8,
9 (trisomy 9, 9p-), 11
(11q, 11;22), 13 (trisomy 13, Patau),
14, 15, 16,
17, 18 (18q-, 18p-, ring 18, trisomy 18, tetrasomy
18p, Edwards), 20, 21
(Down syndrome, trisomy 21), 22, X
& Y [sex chromosome anomalies, Klinefelter
(XXY, other), Turner (XO, other), fragile-X,
other]
- Cleft lip and/or cleft palate
- Cockayne syndrome (xeroderma
pigmentosum)
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- Congenital heart defects
- Connective tissue conditions (Marfan
syndrome, pseudoxanthoma elasticum (PXE),cutis laxa, dwarfism, skeletal dysplasia,
Ehlers Danlos syndrome, hyperextensible joints, Beals syndrome, congenital
contractural arachnodactyly, other)
- Cooley anemia (thalassemia major,
beta-thalassemia)
- Conjoined twins
- Cornelia de Lange syndrome
- Costello syndrome
- Craniofacial conditions (Apert,
Crouzon, Treacher Collins, Goldenhar, hemifacial microsomia), Nager Miller,
neurofibromatosis, ear anomalies, other)
- Cri-du-Chat (5p-)
- Cystic fibrosis
- Cystinosis
- Cystinuria
- Dandy-Walker syndrome
- Deaf / hard of hearing
- Dermatological (skin) conditions
- Developmental delay / mental retardation
- Diabetes
- DiGeorge syndrome
- Down syndrome (Trisomy 21, see
chromosome syndromes)
- Dubowitz syndrome
- Dwarfism/ short stature (achondroplasia,
Jeune, multiple exostoses, hormonal short stature, other forms)
- Dysautonomia
- Dystonia
- Ectodermal dysplasia
- Ehlers Danlos syndrome (& cutis laxa)
- Endocrine Conditions (adrenal, androgen, diabetes, thyroid, ovaries, other)
- Epidermolysis bullosa
- Facial anomalies, disfigurement (craniofacial,
cleft)
- Factor V Leiden (thrombophilia)
- Fanconi anemia
- Fetal alcohol syndrome and effects
- FG syndrome
- Fragile-X syndrome (Martin-Bell)
- Friedreich ataxia
- Freeman Sheldon syndrome (craniocarpotarsal
dystrophy)
- Galactosemia
- Gardner syndrome (intestinal polyposis)
- Gastroenterology conditions (stomach,
small intestine, large intestine, colon)
- Gaucher disease
- Glycogen storage disease
- Goldenhar syndrome (hemifacial
microsomia)
- Gorlin syndrome (basal
cell carcinoma, nevi)
- Hallermann Streiff syndrome
- Hearing problems
- Heart conditions (congenital
heart, adult cardiovascular)
- Hemochromatosis (iron overload)
- Hemophilia
- Hemoglobinopathies
- Hereditary hemorrhagic telangiectasia
(HHT, Osler-Weber-Rendu syndrome)
- Hereditary spastic paraplegia (familial
spastic paraparesis)
- Hermansky-Pudlak syndrome
- Hirschsprung anomaly
- Holoprosencephaly
- Huntington disease
- Hydrocephalus (neural tube defects,
hydranencephaly)
- Ichthyosis (also, epidermolytic hyperkeratosis, multiple sulfatase deficiency, keratoderma,
Refsum disease, other)
- Immune deficiencies
- Incontinentia pigmenti
- Infant death
- Infertility
- Intestinal problems (gastrointestinal, illium, colon, bowel)
- Joseph disease
- Joubert syndrome
- Kabuki syndrome
- Kidney conditions
- Klinefelter syndrome (see chromosome syndromes)
- Klippel-Feil syndrome
- Klippel-Trenaunay syndrome
- Langer-Giedion syndrome
- Laurence-Moon-Biedl syndrome (Laurence-Moon Bardet-Biedl syndrome)
- Leber Optic Atrophy
- Leigh disease
- Lesch-Nyhan syndrome
- Leukodystrophy [Adrenoleukodystrophy
(ALD), Alexanders Disease, CADASIL (Cerebral Autosomal Dominant Arteriopathy
with Subcortical Infarcts & Leukoencephalopathy), Canavan Disease (Spongy
Degeneration), Cerebrotendinous Xanthomatosis (CTX), Globoid Cell (Krabbes)
Leukodystrophy, Metachromatic Leukodystrophy (MLD), Ovarioleukodystrophy ,
Pelizaeus-Merzbacher Disease, Refsum Disease, van der Knaap syndrome, Zellweger
syndrome]
- Limb anomalies [missing arm(s) or leg(s),
Poland anomaly, other]
- Lissencephaly [Isolated Sequence
(ILS), X-Linked (XLIS), Subcortical Band Heterotopia (SBH), Miller-Dieker
syndrome (MDS), Microcephaly, Microlissencephaly (MLIS), Norman-Roberts
syndrome (NRS), With Cerebellar Hypoplasia (LCH), Polymicrogyria (PMG), Schizencephaly
(SCH), Muscle-Eye-Brain (MEB) Disease, and Walker-Warburg syndrome (WWS),
17p13.3 deletion]
- Liver conditions (biliary atresia,
Alagille syndrome, alpha-1 antitrypsin, tyrosinemia, neonatal hepatitis, Wilson
disease)
- Lowe syndrome
- Lung / pulmonary conditions
- Lymphedema
- Maffucci syndrome(Ollier,
multiple cartilaginous enchondromatosis)
- Malignant hyperthermia
- Maple syrup urine disease
- Marinesco-Sjogren Syndrome
- Marfan syndrome
- Menkes syndrome
- Mental retardation / developmental delay
- Metabolic conditions (biotinidase
deficiency, carbohydrate deficient glycoprotein syndrome
(CDGS), Crigler-Najjar syndrome, diabetes
insipidus, Fabry, galactosemia, glucose-6-phosphate
dehydrogenase (G6PD), fatty acid oxidation disorders, glutaric
aciduria, hypophosphatemia, Krabbe, lactic acidosis,
lysosomal storage diseases, mannosidosis, maple syrup urine, mitochondrial,
neuro-metabolic, organic acidemias, PKU, purine, pyruvate dehydrogenase deficiency,
urea cycle conditions, vitamin D deficient rickets)
- Miscarriage, stillbirth, infant death
- Mitochondrial conditions (Alpers,
Barth, beta-oxidation defects, carnitine deficiency, CPEO, Kearns-Sayre, lactic
acidosis, Leber optic neuropathy, Leigh,
LCAD, Luft, MCAD, MAD, glutaric aciduria, MERRF, MNGIE, NARP, Pearson, PHD,
SCAD, NADH-CoQ reductase, succinate dehydrogenase, Complex III, Complex IV,
COX, Complex V, other)
- Moebius syndrome
- Mucolipidosis, type IV (ML4)
- Mucopolysaccharidosis (Hunter
syndrome, Hurler syndrome, Maroteaux-Lamy syndrome, Sanfilippo syndrome, Scheie
syndrome, Morquio syndrome, other)
- Multiple hereditary exostoses
- Muscular dystrophy / atrophy (neuromuscular conditions including: Duchenne, facioscapulohumeral, Charcot Marie Tooth, spinal muscular atrophy, other)
- Myotonic dystrophy
- Nager & Miller syndromes
- Nail Patella syndrome
- Narcolepsy
- Neurologic conditions (neuro-metabolic, neurogenetics, neuromuscular, CADASIL, Huntington
disease, other)
- Neurofibromatosis (von Recklinghausen)
- Neuromuscular conditions
- Niemann-Pick disease
- Noonan syndrome
- Opitz syndromes [Opitz-Frias, Opitz FG (Opitz-Kaveggia), Opitz-C (Trigonocephaly)]
- Organic acidemias
- Osler-Weber-Rendu syndrome
- Osteogenesis imperfecta
- Oxalosis & hyperoxaluria
- Pallister-Hall syndrome
- Pallister-Killian syndrome (tetrasomy 12p, Teschler-Nicola syndrome)
- Periodic paralysis
- Phenylketonuria (PKU)
- Polycystic kidney disease
- Popliteal pterygium syndrome
- Porphyria
- Prader-Willi syndrome
- Progeria (Werner, Hutchinson-Gilford, Cockayne, Rothmond-Thomson syndromes)
- Proteus syndrome
- Prune belly syndrome
- Pseudoxanthoma elasticum (PXE)
- Psychiatric conditions
- Refsum disease
- Retinal degeneration
- Retinitis pigmentosa (retinal degenerative diseases, Usher syndrome)
- Retinoblastoma
- Rett syndrome
- Robinow syndrome
- Rubinstein-Taybi syndrome
- Russell-Silver syndrome
- Schizencephaly
- Sex chromosome anomalies (47,XXY, 47,XXX, 45,X and variants, 47,XYY)
- Shwachman syndrome
- Sickle cell anemia
- Skeletal dysplasia
- Skin / dermatological conditions
- Smith-Lemli-Opitz syndrome (RHS syndrome)
- Smith-Magenis syndrome (17p-)
- Sotos syndrome
- Spina bifida (myelomeningocele, neural tube defects)
- Spinal muscular atrophy (Werdnig-Hoffman, Kugelberg-Welander)
- Stickler / Marshall syndrome
- Stillbirth
- Sturge-Weber
- Tay-Sachs disease / other (dysautonomia, dystonia, Gaucher, Niemann Pick, Canavan, Bloom)
- Thalassemia (Cooley anemia)
- Thrombocytopenia absent radius syndrome
- Tourette syndrome
- Treacher Collins syndrome (craniofacial)
- Trisomy (21, 18, 13, 9, other, see chromosome syndromes)
- Tuberous sclerosis
- Turner syndrome
- Twins / triplets / multiple births
- Unknown & undiagnosed conditions
- Urea cycle conditions
- Urologic / kidney conditions
- Usher syndrome
- VATER association
- Velo-cardio-facial syndrome (Shprintzen, DiGeorge, 22q deletion)
- Visual impairment / blind
- Von Hippel-Lindau syndrome
- Waardenburg syndrome
- Weaver syndrome
- Werner syndrome
- Williams syndrome
- Wilson disease (hepatolenticular degeneration)
- Xeroderma pigmentosum
- Zellweger syndrome
Other information:
Translating documents into other languages:
Translation
service, AltaVista (Spanish, French, Italian, Portuguese, German,
English)
Free Translation (English,
French, German, Italian, Norwegian, Portuguese, Spanish), text or web page
Babylon translation program,
free (English to Spanish, German, Portuguese, French, Italian, Dutch, Japanese,
Hebrew, Chinese)
Systran Internet Translation Technologies,
free translations, including web pages
iLoveLanguages, formerly
Human Languages Page
- dictionaries, translation programs, cultural resources for Spanish, German,
French, Russian, Vietnamese, sign language, other
Other Translation Services
Language
& Translation Center,
Martindale, English to Other Languages & Vice Versa
Writing about Individuals with Genetic Conditions
Search engines
To locate a genetic counselor or clinical geneticist:
Bookmark this page:
Press 'Ctrl' + 'D'
Genetic Conditions & Support Groups |
Genetic Societies
| Clinical Resources
|
Labs
| Clinics
|
Genetics Education
| Careers
|
Cytogenetics
| Genome Centers
|
Genetic Computer Resources
|
Professional Education
| Diversity |
Advocacy
| Glossaries |
Advisors
| Software
|
Disclaimer | Privacy
|
About | FAQ
|
Suggestions & Feedback
|
Search
Genetics Education Center
University of Kansas Medical Center © 1995-2012
Debra Collins, M.S. CGC, Genetic Counselor, dcollins@kumc.edu
---------------------------
This site complies with the HONcode standard for trustworthy health information:
verify here.
Web accessibility