syndrome
set of medical signs and symptoms which are correlated with each other and often clinically associated with a particular disease or disorder
cystic fibrosis
autosomal recessive disease characterized by the buildup of mucus
Beckwith-Wiedemann syndrome
syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations
altitude sickness
acute negative health effects from high altitude
metabolic syndrome
disease diagnosed by a cluster of at least 3 out of the following conditions: abdominal obesity, high blood pressure, high blood sugar, high serum triglycerides, low serum high-density lipoprotein
Treacher Collins syndrome
human genetic disorder
CHARGE syndrome
syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina
Peter Pan syndrome
syndrome
toxic shock syndrome
condition caused by bacterial toxins
DOOR syndrome
human disease
contracture
prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint
Kabuki syndrome
rare disease
median arcuate ligament syndrome
Human disease
spoiled child
derogatory term aimed at children who exhibit behavioral problems from being overindulged by their parents or other caregivers
Laurence-Moon syndrome
rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities
Senior-Loken syndrome
autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease
Alvarez' syndrome
medical condition
Bjornstad syndrome
Human disease
pelvic congestion syndrome
human disease
Perlman syndrome
syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome
Tietz syndrome
monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on chromosome 3p13
ulnar-mammary syndrome
skin condition characterized by underdevelopment of the apocrine and mammary glands which can cause various nipple, breast and genital abnormalities, and abnormal development of fingers and forearms
Perrault syndrome
autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure
salt and pepper syndrome
autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation
COACH Syndrome
a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.
cocoon syndrome
human disease
H syndrome
genetic condition
Winchester syndrome
human disease
stroke
death of a region of brain cells due to poor blood flow
Adie syndrome
neurological disorder characterized by a tonically dilated pupil
Gulf War syndrome
illlnesses affecting Gulf War Vets
Cornelia de Lange syndrome
genetic disease
Pitt-Hopkins syndrome
rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea
Bloom syndrome
rare genetic disorder with short strature and predisposition to cancer
Johanson-Blizzard syndrome
congenital disorder of digestive system
Lown-Ganong-Levine syndrome
syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles
Klippel-Feil syndrome
physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra
Stickler syndrome
rare genetic disorder affecting collagen
Donohue syndrome
Human disease
physical dependence
physical condition caused by chronic use of a tolerance-forming drug
phantom vibration syndrome
Perception that one's mobile phone is vibrating or ringing when it is not
Timothy syndrome
autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C
oral-facial-digital syndrome
genetic disease that is characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system and has material basis in X-linked inheritance of an OFD gene
urticarial syndrome
group of medical conditions
N syndrome
Human disease
lethargy
state of tiredness, weariness, fatigue, or lack of energy
neurotoxic shellfish poisoning
syndrome of shellfish poisoning
Ogden syndrome
X-linked disease resulting from a deficiency in N-terminal acetyltransferase, extreme abrupt behavior, anger issues, characterized by postnatal growth failure with severe delays and dysmorphic features in boys
Beemer-Langer syndrome
syndrome that results in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly