Headlines:

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SYNDROMES
ENVIRONMENTAL CAUSES

ACUTE RADIATION SYNDROME: Radiation exposure.

o 12 hours post-exposure: Vomiting
o 24 hours post-exposure: Prostration (extreme exhaustion), fever, diarrhea
o Later: Petechial hemorrhage, hypotension, tachycardia, profuse bloody diarrhea, maybe
death.

CHINESE RESTAURANT SYNDROME: MSG reaction ------> Chest Pain, burning

sensation over parts of body.

BROWN-SEQUARD SYNDROME: Damage (injury) to half of spinal cord ------>

symptoms:
o Loss of pain and temperature sensation on contralateral side of body.
o Loss of proprioception and discriminatory touch on ipsilateral side of body.

CARDIOVASCULAR

ADAMS-STOKES SYNDROME: Heart block, with slow or absent pulse, often accompanied
by convulsions.

BARLOW SYNDROME: Floppy Mitral Valve Syndrome; Massive Mitral Valve Prolapse
------> Late apical systolic murmur, systolic click, or both.

EISENMENGER'S SYNDROME: Ventricular-Septal Defect ------> Pulmonary hypertension

and cyanosis.

FLOPPY-VALVE SYNDROME: Mitral Incompetence due to myxomatous degeneration of

the leaflets.

LERICHE'S SYNDROME: Occlusion of distal aorta ------>

o Hip, thigh, and calf fatigue.
o Impotence

BEHCET'S SYNDROME: Vasculitis ------> secondary symptoms:

o Oral and genital ulcers
o Uveitis
o Optic atrophy

SHOULDER-HAND SYNDROME: Pain in shoulder and swelling in hand, sometimes

occurring after Myocardial Infarction.

SICK SINUS SYNDROME: Chaotic atrial activity; continual changes in P-Waves.

Bradycardia, alternating with recurrent ectopic beats and runs of tachycardia.

SUPERIOR VENA CAVA SYNDROME: Caused by a tumor. Obstruction of SVC ------>

o Edema
o Engorgement of the vessels of face, neck, and arms.
o Nonproductive cough
o Dyspnea

TAKAYASU'S SYNDROME: Arteritis of the Aortic Arch, resulting in no pulse. Seen in

young women.

WOLF-PARKINSON WHITE SYNDROME: ECG pattern of Paroxysmal Tachycardia.

o Short PR interval

o Delta wave = early QRS complex.

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Miscellaneous

SYNDROMES
ENVIRONMENTAL CAUSES

ACUTE RADIATION SYNDROME: Radiation exposure.

o 12 hours post-exposure: Vomiting

o 24 hours post-exposure: Prostration (extreme exhaustion), fever, diarrhea
o Later: Petechial hemorrhage, hypotension, tachycardia, profuse bloody diarrhea,
maybe death.

CHINESE RESTAURANT SYNDROME: MSG reaction ------> Chest Pain, burning

sensation over parts of body.

BROWN-SEQUARD SYNDROME: Damage (injury) to half of spinal cord ------>

symptoms:
o Loss of pain and temperature sensation on contralateral side of body.
o Loss of proprioception and discriminatory touch on ipsilateral side of body.

CARDIOVASCULAR

ADAMS-STOKES SYNDROME: Heart block, with slow or absent pulse, often

accompanied by convulsions.

BARLOW SYNDROME: Floppy Mitral Valve Syndrome; Massive Mitral Valve

Prolapse ------> Late apical systolic murmur, systolic click, or both.

EISENMENGER'S SYNDROME: Ventricular-Septal Defect ------> Pulmonary

hypertension and cyanosis.

FLOPPY-VALVE SYNDROME: Mitral Incompetence due to myxomatous degeneration

of the leaflets.

LERICHE'S SYNDROME: Occlusion of distal aorta ------>

o Hip, thigh, and calf fatigue.
o Impotence

BEHCET'S SYNDROME: Vasculitis ------> secondary symptoms:

o Oral and genital ulcers

o Uveitis
o Optic atrophy

SHOULDER-HAND SYNDROME: Pain in shoulder and swelling in hand, sometimes

occurring after Myocardial Infarction.

SICK SINUS SYNDROME: Chaotic atrial activity; continual changes in P-Waves.

Bradycardia, alternating with recurrent ectopic beats and runs of tachycardia.

SUPERIOR VENA CAVA SYNDROME: Caused by a tumor. Obstruction of SVC ------>

o Edema
o Engorgement of the vessels of face, neck, and arms.
o Nonproductive cough
o Dyspnea

TAKAYASU'S SYNDROME: Arteritis of the Aortic Arch, resulting in no pulse. Seen in

young women.

WOLF-PARKINSON WHITE SYNDROME: ECG pattern of Paroxysmal Tachycardia.

o Short PR interval
o Delta wave = early QRS complex.

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IATROGENIC (or Secondary to Medical Treatment)

AFFERENT LOOP SYNDROME: Gastrojejunal loop obstruction, proximal to a

gastrojejunostomy.
o Ingestion of food produces nausea, pain, and duodenal distension.

ASHERMAN'S SYNDROME: Adhesions within the endometrial cavity, causing

amenorrhea and infertility.
o Adhesions probably were caused by surgery.

ULYSSES SYNDROME: Ill effects from follow-up diagnostic tests following a falsepositive screening test.

NEOPLASTIC (Malignant or Benign)

CARCINOID SYNDROME: Carcinoid tumor producing Bradykinin + Serotonin ------>

secondary symptoms:
o Cyanotic flushing
o

Diarrhea

o Bronchial spasm

o Edema, ascites.

CRONKHITE-CANADA SYNDROME: GI-Polyps with diffuse alopecia (hair-loss) and

nail dystrophy.
o May see protein-losing enteropathy and malabsorption.

GARDNER'S SYNDROME: Multiple inherited tumors, hereditary dominant trait.

o Skull osteomas, Fibromas, Epidermoid cysts
o Colonic polyposis (APC gene) ------> predisposition to colonic adenocarcinoma.

LAMBERT-EATON SYNDROME: Progressive proximal muscle weakness secondary to

a carcinoma.

MEIGS' SYNDROME: Fibroma of ovary with ascites and hydrothorax

PANCOAST SYNDROME: Tumor near pulmonary apex ------>

o Neuritic pain of chest and arm
o Muscle atrophy of the arm
o Horner's Syndrome (impaired cervical sympathetics)

PEUTZ-JEGHERS SYNDROME: Polyposis (hamartomas) of small intestine

o Also see melanin pigmentation of buccal mucosa and skin around mouth and lips

CONGENITAL

CEREBELLAR SYNDROME: Congenital Cerebellar Ataxia

CERVICAL SYNDROME: Supernumerary C7 rib ------> Pressure on brachial plexus

------> pain radiating over shoulder, arm, and forearm over C7 distribution.

DANDY-WALKER SYNDROME: Obstruction of Foramina of Magendie and Luschka

in infants ------> Hydrocephalus.

DIGEORGE SYNDROME: Congenital absence of 3rd and 4th Branchial Arches (Thymus

and Parathyroid Glands) ------> secondary symptoms:

o No cell-mediated immunity ------> Frequent viral and fungal infections
o Characteristic facial deformities

DOWN SYNDROME: Trisomy 21. Mental retardation, characteristic facial features,

Simeon crease in hand.

FANCONI'S SYNDROME Type I: Bone-marrow hypoplasia ------> refractory anemia,

pancytopenia.

EHLERS-DANLOS SYNDROME: Congenital defect in collagen.

o Hyper-elasticity and friability of the skin.
o Hyperextensibility of the joints.

FETAL ALCOHOL SYNDROME: Fetal malformations, growth deficiencies,

craniofacial anomalies, limb defects.

GOODPASTURE'S SYNDROME: Autoantibodies against basement membranes ------>

Glomerulonephritis (kidney) and hemoptysis (lungs).
o Often, death by renal failure

KLINEFELTER'S SYNDROME: Trisomy XXY ------> testicular atrophy, increase in

gonadotropins in urine.

KLIPPEL-FEIL SYNDROME:
o Cervical vertebrate fused
o Congenital short neck, limited neck rotation
o Abnormalities of the brainstem and cerebellum
o Low hairline.

LESCH-NYHAN SYNDROME: Deficiency of HGPRT (Hypoxanthine-Guanine

Phospho-ribosyltransferase ------>

o Hyperuricemia, uric acid kidney stones

o Choreoathetosis
o Mental retardation, autism, spastic cerebral palsy
o X-Linked recessive

MARFAN SYNDROME: Connective Tissue disorder ------>

o Arachnodactyly: Abnormally long digits and extremities
o Subluxation of lens
o Dissecting aortic aneurism

POSTRUBELLA SYNDROME: Infantile defects resulting from maternal Rubella

infection during first trimester.
o Microphthalmos, cataracts
o Deafness
o Mental retardation
o Patent ductus arteriosis, Pulmonary arterial stenosis

PRADER-WILLI SYNDROME: Short stature, mental retardation, polyphagia with

marked obesity, sexual infantilism.

RENDU-OSLER-WEBER SYNDROME: Hereditary hemorrhagic telangiectasia.

SUDDEN INFANT DEATH SYNDROME: Unexplained death in sleeping infants.

TURNER'S SYNDROME: XO monosomy.

o Dwarfism
o Webbed neck
o Valgus of elbow.

o Amenorrhea

WILSON SYNDROME: Congenital defect in Ceruloplasmin, leading to buildup of

copper ------> mental retardation, cirrhosis, hepatolenticular degeneration.

ENDOCRINE, REPRODUCTIVE

AMENNORRHEA-GALACTORRHEA SYNDROME: Non-physiologic lactation,

resulting from endocrinologic causes or from a pituitary disorder.

CONN'S SYNDROME: Primary Hyperaldosteronism ------> muscular weakness,

hypertension, hypokalemia, alkalosis.

CUSHING'S SYNDROME: Hypersecretion of cortisol ------> secondary symptoms and

characteristics:
o Fatness of face and trunk with wasting of extremities
o Buffalo hump
o Bone decalacification
o Corticoid diabetes
o Hypertension

PREMENSTRUAL SYNDROME: Abnormal sensation in breasts, abdominal pain, thirst,

headache, pelvic congestion, nervous irritability.
o Ocassionally nausea and vomiting.

SHEEHAN'S SYNDROME: Post-partum pituitary necrosis ------> hypopituitarism.

STEIN-LEVENTHAL SYNDROME: Polycystic ovary ------> infertility, amenorrhea,

hirsutism. Seen in obese women.

TESTICULAR FEMINIZATION SYNDROME: Insensitivity to Testosterone. Male

Psuedohermaphroditism

o Complete female external genatalia, incompletely developed vagina, rudimentary

uterus.

PULMONARY

KARTAGENER'S SYNDROME: Situs Inversus (lateral transposition of lungs) resulting

from chronic sinusitis and bronchiectasis.

HAMMAN-RICH SYNDROME: Interstitial fibrosis of the lung.

MIDDLE-LOBE SYNDROME: Chronic pneumonitis and atalectasis of middle lobe of

right lung.

CHURG-STRAUSS SYNDROME: Allergic Granulomatous Angiitis: Asthma, fever,

eosinophilia.

INFECTIOUS

FITZ-HUGH-CURTIS SYNDROME: Gonococcal Periphepatitis in woman, as a

complication of Gonorrhea.

GUILLAIN-BARRE SYNDROME: Infectious Polyneuritis of unknown cause.

HUNT'S SYNDROME: Herpe's Zoster infection of Facial Nerve (CN VII) and
Geniculate Ganglion ------> facial palsy.
o Zoster of ear

PARINAUD'S SYNDROME: Preauricular lymph node enlargement on the same side as

conjunctivitis.

REYE'S SYNDROME: Loss of consciousness and seizures in kids, after a viral infection
treated by aspirin.

REITER'S SYNDROME: Symptom cluster. Etiology is thought to be Chlamydial or

post-chlamydial.
o Urethritis

o Iridocyclitis (Conjunctivitis)
o Arthritis
o Skin lesions like karatoderma blenorrhagicum
o Also can see fatty liver or liver necrosis.

SCALDED SKIN SYNDROME: S. Aureus toxic epidermal necrolysis.

STEVENS-JOHNSON SYNDROME: Erythema Multiforme complication.

o Large areas of skin slough, including mouth and anogenital membranes.
o Mucous membranes: stomatitis, urethritis, conjunctivitis.
o Headache, fever, malaise.

TOXIC SHOCK SYNDROME: Caused by superabsorbent tampons. Infection with

Staph Aureus and subsequent toxicity of exotoxin TSST ------> systemic anaphylaxis.
o Fever, vomiting, diarrhea
o Red rash followed by desquamation

WATERHOUSE-FRIEDRICHSON SYNDROME: Meningeococcal Meningitis ------>

DIC, hemorrhagic infarct of adrenal glands ------> fulminant adrenal failure.
o Vomiting, diarrhea.
o Shock
o Extensive purpura, cyanosis, circulatory collapse.

RENAL

KEMMELSTIEL-WILSON SYNDROME: Diabetic Glomerulosclerosis.

BARTTER'S SYNDROME: Juxtaglomerular Cell Hyperplasia ------> secondary

symptoms:

o Hyperaldosteronism, Hypokalemic Alkalosis, elevated renin and angiotensin

o No hypertension.
o Compare to Conn's Syndrome

FANCONI'S SYNDROME Type II: Renal aminoaciduria, glycosuria, hypophosphaturia,

cysteine deposition, rickets.

THORN'S SYNDROME: Salt-losing nephritis.

NEUROLOGICAL

CARPAL-TUNNEL SYNDROME: Compression of Median Nerve through the Carpal

Tunnel ------> pain and parasthesia over distribution of Median N.

FROIN'S SYNDROME: Block in CSF flow ------> xanthochromia (yellow discoloration)

of CSF.

ACUTE-BRAIN SYNDROME: Delirium, confusion, disorientation, developing

suddenly in a person that was previously psychologically normal.

GERSTMANN'S SYNDROME: Lesion between occipital area and angular gyrus ------>
symptoms:
o Finger agnosia, Agraphia, acalculia
o Right-left disorientation

HORNER'S SYNDROME: Loss or lesion of cervical sympathetic ganglion ------>

o Ptosis, miosis, anhydrosis
o Enophthalmos (caved in eyes)

KORSAKOFF SYNDROME: Loss of short-term memory in chronic alcoholism, caused

by degeneration of mamillary bodies.

RILEY-DAY SYNDROME: Familial dysautonomia.

GASTROINTESTINAL

MALLORY-WEISS SYNDROME: Laceration of lower end of esophagus from vomiting

------> hematemesis. Often seen in alcoholics.

MALABSORPTION SYNDROME: Impaired absorption of dietary substance ------>

diarrhea, weakness, weight loss, or symptoms from specific deficiencies.

BARRETT SYNDROME: Chronic peptic ulcer of the lower esophagus, resulting in

metaplasia of esophageal columnar epithelium ------> squamous epithelium.

ZOLLINGER-ELLISON SYNDROME: Gastrin-secreting tumor in pancreas ------>

Severe peptic ulcers, gastric hyperacidity.

PLUMMER-VINSON SYNDROME: Esophageal Webs, leading to dysphagis and

atrophy of papillae of tongue.
o Also see hypochromic anemia, splenomegaly.

RETICULOENDOTHELIAL, HEMATOLOGIC

BANTI'S SYNDROME: Chronic Congestive Splenomegaly with anemia, caused by

either Portal Hypertension or Splenic Vein Thrombosis.

BUDD-CHIARI SYNDROME:
o ACUTE: Hepatic Vein Thrombosis ------> Massive ascites and dramatic death.
o CHRONIC: Gradual hepatomegaly, portal hypertension, nausea, vomiting, edema,
ulimately death.

DUBIN-JOHNSON SYNDROME: Defect in excretion of conjugated bilirubin ------>

recurrent mild jaundice. Buildup of direct builirubin in blood.

CHIDIAK-HIGASHI SYNDROME: Abnormalities in leukocytes with large inclusions.

CRUVEILHIER-BAUMGARTEN SYNDROME: Symptoms cluster:

o Liver cirrhosis

o Caput Medussae
o Venous hum and thrill

FELTY'S SYNDROME: Rheumatoid Arthritis with splenomegaly, leukopenia, anemia,

and thrombocytopenia.

LOFFLER'S SYNDROME: Eosinophilia with transient infiltrates in lungs.

PARINAUD'S SYNDROME: Preauricular lymph node enlargement on the same side as

conjunctivitis.

UNCATEGORIZED

YELLOW-NAIL SYNDROME: Stop growth of nails ------> increased convexity,

thickening, and yellowing of nails.
o Found in Lymphedema, bronchitis, chronic bronchiectasis.

COSTOCHONDRAL SYNDROME: Pain in chest with tenderness over one or more

costochondral junctions.
o Similar to Tietze's Syndrome but no specific inflammation.

TIETZE'S SYNDROME: Costochondritis. Swelling and tenderness of the costal

cartilege.

MIKULICZ'S SYNDROME: Salivary and lacrimal enlargement as seen in several

diseases:
o Sarcoidosis
o Tuberculosis
o Leukemia

MUNCHAUSEN SYNDROME: Malingering -- fabrication of a clinically convincing

disease by an itinerant malingerer.

PICKWICKIAN SYNDROME: Symptom cluster

o Obesity
o Hypoventilation
o Somnolence
o Erythrocytosis

RESTLESS LEGS SYNDROME: Need to stretch legs at night before going to sleep;
twitch in legs causing insomnia.

STRAIGHT BACK SYNDROME: Loss of normal kyphosis of thoracic spine ------>

o Straight spine
o Ejection murmur
o Widened cardiac silouhette on x-ray

SJ?REN'S SYNDROME: Autoimmune complex

o Keratoconjuctivitis Sicca (dry eyes and mouth)
o Dryness of Mucous membranes
o Telangiectasias in face
o Parotid enlargement

http://www.medindia.net/medical-syndromes/

A
Acute Brain Syndrome
Acute Radiation Syndrome
Adams-stokes Syndrome
Afferent Loop Syndrome
Alport
Amennorrhea-galactorrhea Syndrome
Asherman's Syndrome

B
Bantis Syndrome
Barlow Syndrome
Barret Syndrome
Bartter's Syndrome
Behcets Syndrome
Boerhaaves Syndrome
Brown-sequard Syndrome
Bud-chiari Syndrome

C
Carcinoid Syndrome Carpal Tunnel Syndrome Cervical Syndrome Chidiak-higashi Syndrome
Chinese Restaurant Syndrome Chronic Fatigue Immune Dysfunction Syndrome Churg-strauss
Syndrome Conn's Syndrome Cornelia De Lange Syndrome Costochondral Syndrome Criglernajjar Syndrome Cronkhite-canada Syndrome Cruveilhier-baumgarten Syndrome Cushing's
Syndrome

D
Dandy-walker Syndrome Digeorge Syndrome Down Syndrome Dubin-johnson Syndrome Dubinjohnson Syndrome Dysautonomia

E
Edwards Syndrome Ehlers-danlos Syndrome Eisenmenger Syndrome

F
Fanconi's Syndrome Fanconi's Syndrome Type Ii Felty's Syndrome Fetal Alcohol Syndrome
Fibromyalgia Fisher Syndrome Fitz-hugh-curtis Syndrome Floppy-valve Syndrome Foster
Kennedy's Syndrome Froin's Syndrome

G
Gardner's Syndrome Gerstmann's Syndrome Gitelman Syndrome Glandial/glands Goldenhar
Syndrome Goodpasture's Syndrome Guillain-barre Syndrome

H
Hamman-rich Syndrome Heerfordt Syndrome Hepatopulmonary Syndrome Horner's Syndrome

I
Irritable Bowel Syndrome

K
Kartagener's Syndrome Kearns-sayre syndrome kimmelstiel-wilson syndrome Kleine Levin
Syndrome Klinefelter's Syndrome Klippel-Feil Syndrome Kluver-Bucy syndrome Korsakoff
Syndrome

L
Lambert-eaton Syndrome Leriches Syndrome Lesch-nyhan Syndrome Loeffler's Syndrome Lownganong-levine Syndrome Lutembacher Syndrome

M
Malabsorption Syndrome Mallory-weiss Syndrome Marfan Syndrome Mayer-Rokitansky-KsterHauser syndrome Meigs Syndrome Metabolic Syndrome Middle-lobe Syndrome Mikulicz's
Syndrome Mirizzi Syndrome Mobius Syndrome Munchausen Syndrome

O
Ochoa Syndrome Ortner's syndrome

P
Pancoast Syndrome Parinauds Syndrome Peutz-jeghers Syndrome Pica Syndrome Pickwickian
Syndrome Plummer-vinson Syndrome Post Rubella Syndrome Prader-willi Syndrome
Premenstrual Syndrome Puppet Syndrome

R
Ramsay Hunt Syndrome Reiter's Syndrome Rendu-Osler-Weber Syndrome Restless Legs
Syndrome Reye's Syndrome Riley-day Syndrome

S
Scalded Skin Syndrome Serotonin Syndrome Sezary Syndrome Sheehan's Syndrome Shoulderhand Syndrome Sick Sinus Syndrome Sjgren's Syndrome Sliding Uncus Syndrome Steinleventhal Syndrome Stevens-johnson Syndrome Straight Back Syndrome Sturge Weber syndrome
Sudden Infant Death Syndrome Superior Vena Cava Syndrome

T
Takayasu's Syndrome Testicular Feminization Syndrome Thorn's Syndrome Tietze's Syndrome
Toxic Shock Syndrome Tumor Lysis Syndrome Turner's Syndrome

U
Ulysses Syndrome

W
Waterhouse-Friderichsen Syndrome Weismann-netter-stuhl Syndrome Wilson Syndrome WolffParkinson White Syndrome

Y
Yellow-Nail Syndrome

Z
Zollinger-Ellison Syndrome

https://en.wikipedia.org/wiki/List_of_genetic_disorders#Most_common_disorders

Disorder name
1p36 deletion syndrome

Mutation type
D

Chromosome
1p36

Disorder name
18p deletion syndrome

Mutation type
D

21-hydroxylase deficiency
47,XXX
see triple X syndrome

47,XXY
see Klinefelter syndrome

Chromosome
18p
6p21.3

5-ALA dehydratase-deficient porphyria

see ALA dehydratase deficiency

AAT

14q32

see alpha 1-antitrypsin deficiency

aceruloplasminemia

3p26.3

Achondrogenesis type II

12q13.11

achondroplasia
Acrocephaly
see Apert syndrome

substitution

4p16.3
10q26.13

acute intermittent porphyria

adenylosuccinate lyase deficiency
Adrenoleukodystrophy
Alagille syndrome
Albinism
Alexander disease
alkaptonuria
ALS
see amyotrophic lateral sclerosis

Alstrm syndrome
Alzheimer's disease
Amelogenesis imperfecta
androgen insensitivity syndrome
Anemia
Angelman syndrome
ataxia telangiectasia
B variant of the Hexosaminidase GM2
gangliosidosis
see Sandhoff disease

Beare-Stevenson cutis gyrata syndrome

Benjamin syndrome
biotinidase deficiency

10q26

Disorder name

Mutation type

Chromosome

Birth Defects
Bloom syndrome

15q26.1

BirtHoggDub syndrome

17

Broad Thumb-Hallux syndrome

see Rubinstein-Taybi syndrome

CADASIL syndrome

17q24.3-q25.1

22q

D (most common);
or substitution

CFTR (7q31.2)

Cri du chat

5p

Crohn's disease,

16q12

CGD Chronic granulomatous disorder

Campomelic dysplasia
Canavan disease
Cancer
Caylor cardiofacial syndrome
see 22q11.2 deletion syndrome

CF
see cystic fibrosis

[1]

CharcotMarieTooth disease
CHARGE syndrome
Chondrodystrophy with dysplasia
see otospondylomegaepiphyseal dysplasia

Cockayne syndrome
CoffinLowry syndrome
collagenopathy, types II and XI
Cowden syndrome
CPO deficiency
see hereditary coproporphyria

FGFR2 (10q25.3q26)

Crouzon syndrome
Crouzon syndrome with acanthosis nigricans
see Crouzonodermoskeletal syndrome

cutis gyrata syndrome of Beare-Stevenson

see Beare-Stevenson cutis gyrata syndrome

Genetic hypercalciuria

Xp11.22

see Dent's disease

de Grouchy syndrome 1
see De Grouchy syndrome

Di George's syndrome

18p

22q

Disorder name

Mutation type

Chromosome

distal hereditary motor neuropathy

EhlersDanlos syndrome
Erythroblastic anemia
see beta-thalassemia

FA
see fanconi anemia

Fabry disease

Xq22.1

3q12

factor V Leiden thrombophilia

familial adenomatous polyposis
familial dysautonomia
FG syndrome
Friedreich's ataxia
G6PD deficiency
galactosemia
Gaucher disease
Glioma, retinal
see retinoblastoma

Glycine encephalopathy
see Nonketotic hyperglycinemia

Haemochromatosis
see hemochromatosis

Harlequin type ichthyosis

hemophilia
hepatoerythropoietic porphyria
Hereditary coproporphyria
Hereditary hemorrhagic telangiectasia (HHT)
Hereditary Inclusion Body Myopathy
see skeletal muscle regeneration

Hereditary multiple exostoses

Hereditary spastic paraplegia
see infantile-onset ascending hereditary spastic
paralysis

Hereditary spinal ataxia

see Friedreich's ataxia

HNPP
see hereditary neuropathy with liability to pressure
palsies

homocystinuria

Disorder name
Huntington's disease

Mutation type
T

Chromosome
4p16.3

HutchinsonGilford progeria syndrome

see progeria

hyperoxaluria, primary
hyperphenylalaninemia
Hypochondrogenesis
Hypochondroplasia

4p16.3

ICF syndrome

20q11.2

see Immunodeficiency, centromere instability and facial

anomalies syndrome

Incontinentia pigmenti

Xq28

Inv dup

15q11-14

infantile-onset ascending hereditary spastic

paralysis
Isodicentric 15
see isodicentric 15

JacksonWeiss syndrome
Joubert syndrome
JPLS

ALS2

see Juvenile Primary Lateral Sclerosis

Keloid disorder
Kniest dysplasia
Krabbe disease
Lesch-Nyhan syndrome
Li-Fraumeni syndrome
lipoprotein lipase deficiency, familial
Marfan syndrome

15

McCuneAlbright syndrome

20 q13.2-13.3

McLeod syndrome

MEDNIK

[2][3]

Mediterranean fever, familial

Menkes disease
Mental retardation with osteocartilaginous
abnormalities
see CoffinLowry syndrome

Methemoglobinemia
methylmalonic acidemia

AP1S1

Disorder name

Mutation type

Micro syndrome
Microcephaly

Chromosome
2q21.3

1q31 (ASPM)

Mowat-Wilson syndrome
Mucopolysaccharidosis (MPS I)
Muenke syndrome
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker
type
myotonic dystrophy
Neurofibromatosis type I

17q11.2

Neurofibromatosis type II
Niemann-Pick
see NiemannPick disease

NPA, NPB, NPC1, NPC2,

Sphingomyelin
phosphodiesterase 1

SMPD1

16 (PKD1) or 4
(PKD2)

Nonketotic hyperglycinemia
see Glycine encephalopathy

nonsyndromic deafness
Noonan syndrome
Ogden syndrome
osteogenesis imperfecta
pantothenate kinase-associated
neurodegeneration
Patau Syndrome (Trisomy 13)
PCC deficiency
see propionic acidemia

PCT
see porphyria cutanea tarda

Pendred syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome
phenylketonuria
Polycystic kidney disease
porphyria
Prader-Willi syndrome
Primary ciliary dyskinesia (PCD)

Disorder name

Mutation type

Chromosome

primary pulmonary hypertension

protein C deficiency
protein S deficiency
protoporphyria
see erythropoietic protoporphyria

Prion disease
pseudo-Gaucher disease
pseudoxanthoma elasticum
Rett syndrome
RSTS
see Rubinstein-Taybi syndrome

SchwartzJampel syndrome
SED congenita
see spondyloepiphyseal dysplasia congenita

sickle cell anemia

11p15

Siderius X-linked mental retardation

syndrome

PD

Xp11.22

caused by mutations in the PHF8 gene

Smith-Lemli-Opitz syndrome
Smith Magenis Syndrome
spinal muscular atrophy
spinocerebellar ataxia
SSB syndrome
see SADDAN

Stickler syndrome
Strudwick syndrome
see spondyloepimetaphyseal dysplasia, Strudwick type

Tay-Sachs disease
tetrahydrobiopterin deficiency
thanatophoric dysplasia
Treacher Collins syndrome

5q32-q33.1

Trisomy 21
see Down syndrome

Tuberous Sclerosis Complex (TSC)

see Tuberous sclerosis

TSC1, TSC2

Disorder name

Mutation type

Turner's syndrome

Chromosome
X

see Turner syndrome

Usher syndrome
variegate porphyria
von Hippel-Lindau disease
Waardenburg syndrome
Weissenbacher-Zweymller syndrome
Williams Syndrome
Wilson disease
WolfHirschhorn syndrome

4p

Xeroderma pigmentosum

ERCC4

15

X-linked mental retardation and

macroorchidism

see fragile X syndrome

X-linked spinal-bulbar muscle atrophy

see spinal and bulbar muscular atrophy

X-SCID
see X-linked severe combined immunodeficiency

XLSA
see X-linked sideroblastic anemia

XXXX syndrome
see 48, XXXX

XXXXX syndrome
see 49, XXXXX

XYY syndrome
see 47,XYY syndrome

X
X
X
X
X
X