A disease is an abnormal condition of the human body that causes discomfort or impairs bodily functions. This type also includes medical conditions such as injuries, disabilities, disorders, syndromes, etc. that affect the normal functioning of a person, whether physically or mentally. For more...
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| x name | x image | x Risk Factors | x Symptoms | x Treatments | x Notable people with this condition | x article |
|---|---|---|---|---|---|---|
| x Marfan syndrome |
|
Abraham Lincoln |
Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers.
The syndrome is inherited as a dominant trait, carried by the...
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| John Tavener | ||||||
| Austin Carlile | ||||||
| Bradford Cox | ||||||
| Flo Hyman | ||||||
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| x Haemophilia B | Alexandra Feodorovna |
Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene, leading to a deficiency of Factor IX. It is the second most common form of haemophilia, rarer than haemophilia A. It is sometimes called...
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| x Haemophilia |
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Menorrhagia | Alexei Nikolaevich, Tsarevich of Russia |
Haemophilia ( /hiːməˈfɪliə/; also spelled hemophilia in North America, from the Greek haima αἷμα 'blood' and philia φιλος 'love') is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation,...
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| Epistaxis | Prince Friedrich of Hesse and by Rhine | |||||
| Bruise | Ryan White | |||||
| Blood in stool | Alfonso of Spain, Prince of Asturias | |||||
| Arthralgia | Infante Gonzalo of Spain | |||||
| more ▼ | more ▼ | |||||
| x Cancer |
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Tobacco smoking | cerebella tumor | Surgery | Anthony Casso |
Malignant Neoplasm is a tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are...
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| Medulloblastoma | Chemotherapy | Jack Van Impe | ||||
| Radiation therapy | Peter McWilliams | |||||
| Nimotuzumab | Michael Turtur | |||||
| Diana Taylor Dawson | ||||||
| x Rett syndrome | Female | Hyperventilation | Nutrition | Ashli Aitken |
Rett syndrome is a neurodevelopmental disorder of the grey matter of the brain that almost exclusively affects females. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some)...
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| Family history of Rett Syndrome | Speech delay | Anticonvulsant | ||||
| Short attention span | Speech therapy | |||||
| Developmental disability | Physical therapy | |||||
| Muscle weakness | ||||||
| more ▼ | ||||||
| x Tourette syndrome |
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Family history of Tourette syndrome | Dyskinesia | Risperidone | Basshunter |
Tourette syndrome (also called Tourette's syndrome, Tourette's disorder, Gilles de la Tourette syndrome, GTS or, more commonly, simply Tourette's or TS) is an inherited neuropsychiatric disorder with onset in childhood, characterized by multiple...
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| Premature birth | Dystonia | Cognitive behavioral therapy | Mahmoud Abdul-Rauf | |||
| Coprolalia | Clonazepam | Pete Bennett | ||||
| Self-harm | Fluphenazine | Howard Ahmanson, Jr. | ||||
| Palilalia | Pergolide | Eric Bernotas | ||||
| more ▼ | more ▼ | more ▼ | ||||
| x Cleft Palate |
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Family history of cleft chin | Speech disorder | Prosthesis | Cheech Marin |
Cleft lip (cheiloschisis) and cleft palate (palatoschisis), which can also occur together as cleft lip and palate, are variations of a type of clefting congenital deformity caused by abnormal facial development during gestation. A cleft is a fissure...
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| Malnutrition | Speech therapy | |||||
| Otitis | Psychotherapy | |||||
| Deformity | Reconstructive surgery | |||||
| Feeding difficulties | ||||||
| more ▼ | ||||||
| x Duchenne muscular dystrophy |
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Fatigue | Darius Weems |
Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. The incidence is around 1 in 3,600 boys. Females and males are affected, though...
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| Muscle atrophy | ||||||
| Muscle weakness | ||||||
| Toe walking | ||||||
| Motor skills disorder | ||||||
| more ▼ | ||||||
| x Cystic fibrosis |
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Family history of Cystic fibrosis | Dyspnea | Pneumococcal vaccine | Dean Barnett |
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across...
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| Vitamin E deficiency | Clubbing | Bronchodilator | Frankie Abernathy | |||
| Diarrhea | Non-steroidal anti-inflammatory drug | Grégory Lemarchal | ||||
| Rectal prolapse | Acetylcysteine | Nolan Gottlieb | ||||
| Steatorrhea | Antibiotic | Alice Martineau | ||||
| more ▼ | more ▼ | more ▼ | ||||
| x Androgen insensitivity syndrome |
|
Eden Atwood |
Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the...
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| x Klinefelter's syndrome |
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Male infertility | Francis Heaulme |
Klinefelter's syndrome, 47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y...
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| Learning disability | ||||||
| Gynecomastia | ||||||
| Hypogonadism | ||||||
| x Osteogenesis imperfecta |
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Teriparatide | He Pingping |
Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or "Lobstein syndrome") is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency...
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| Debbie Shaffer | ||||||
| Atticus Shaffer | ||||||
| x Coeliac disease |
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Dermatitis herpetiformis | Failure to thrive | Gluten-free diet | Heidi Collins |
Coeliac disease ( /ˈsiːli.æk/; spelled celiac disease in North America and often celiac sprue) is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward. Symptoms include...
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| Selective immunoglobulin A deficiency | Fatigue | |||||
| Hyposplenism | Diarrhea | |||||
| Personal history of Down syndrome | Weight loss | |||||
| Personal history of Microscopic colitis | Stunted growth | |||||
| more ▼ | more ▼ | |||||
| x Neurofibromatosis |
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Neurofibroma | Huang Chuncai |
Neurofibromatosis (commonly abbreviated NF; neurofibromatosis type 1 is also known as von Recklinghausen disease) is a genetically-inherited disorder in which the nerve tissue grows tumors (neurofibromas) that may be benign or may cause serious...
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| Headache | ||||||
| Unsteadiness | ||||||
| Facial Paresis | ||||||
| Café au lait spot | ||||||
| more ▼ | ||||||
| x Congenital heart defect |
|
Isaiah Shoels |
A congenital heart defect (CHD) is a defect in the structure of the heart and great vessels which is present at birth. Many types of heart defects exist, most of which either obstruct blood flow in the heart or vessels near it, or cause blood to...
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| x Down syndrome |
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Family history of Down syndrome | Brushfield spots | Joey Moss |
Down syndrome or Down's syndrome, also known as trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866....
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| Advancing maternal age | Hypotonia | Judith Scott | ||||
| Genetic predisposition to Down syndrome | Mental retardation | Paula Sage | ||||
| Congenital heart defect | Danny Alsabbagh | |||||
| Leukemia | Chris Burke | |||||
| more ▼ | more ▼ | |||||
| x Adrenoleukodystrophy | Lorenzo Odone |
Adrenoleukodystrophy (ALD, also called Siemerling-Creutzfeldt Disease or Addison-Schilder's disease) is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a...
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| x Gout |
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Hyperlipidemia | Arthralgia | Corticosteroid | Marie of Brandenburg-Kulmbach |
Gout (also known as podagra when it involves the big toe) is a medical condition usually characterized by recurrent attacks of acute inflammatory arthritis—a red, tender, hot, swollen joint. The metatarsal-phalangeal joint at the base of the big toe...
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| Alcoholism | Edema | Non-steroidal anti-inflammatory drug | ||||
| Male | Inflammation | Surgery | ||||
| Hypertension | Tophus | Colchicine | ||||
| Diabetes mellitus | ||||||
| more ▼ | ||||||
| x Chronic granulomatous disease |
|
Michael Stolzenberg |
Chronic granulomatous disease (CGD) (also known as Bridges–Good syndrome, Chronic granulomatous disorder, and Quie syndrome) is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive...
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| Harris Stolzenberg | ||||||
| x 22q11.2 deletion syndrome |
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Family History of 22q11.2 deletion syndrome | Autoimmune Disease | Quinn Bradlee |
DiGeorge Syndrome is a congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and...
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| Congenital heart disease | ||||||
| Growth hormone deficiency | ||||||
| Hearing impairment | ||||||
| Hypertelorism | ||||||
| more ▼ | ||||||
| x Usher syndrome |
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Deafness | Gene therapy | Rebecca Alexander |
Usher syndrome (sometimes referred to as "Usher's syndrome") is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include...
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| Vision loss | Christine Roschaert | |||||
| Ginny Paja-Nyholm | ||||||
| Catherine Fischer | ||||||
| Vendon Wright | ||||||
| more ▼ | ||||||
| x Albinism |
|
Salif Keïta |
Albinism (from Latin albus, "white"; see extended etymology, also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect...
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| Yellowman | ||||||
| Connie Chiu | ||||||
| Johnny Winter | ||||||
| Robert Lowe, Viscount Sherbrooke | ||||||
| more ▼ | ||||||
| x Spina bifida |
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Obesity | Paralysis | Surgery | Samuel Armas |
Spina bifida (Latin: "split spine") is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is...
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| White | Birthmark | Caesarean section | David Proud | |||
| Hispanic | Seizure | |||||
| Female | Dysphonia | |||||
| Diabetes mellitus | Strabismus | |||||
| more ▼ | more ▼ | |||||
| x Retinopathy of prematurity |
|
Stevie Wonder |
Retinopathy of prematurity (ROP), previously known as retrolental fibroplasia (RLF), is an eye disease that affects prematurely-born babies. It is thought to be caused by disorganized growth of retinal blood vessels which may result in scarring and...
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| x Achondroplasia |
|
Tom Shakespeare |
Achondroplasia ( /əˌkɒndrɵˈpleɪziə/) is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder.
Achondroplastic...
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| Josh Ryan Evans | ||||||
| x Coronary heart disease |
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Menopause | Dyspnea | Coronary stent |
Coronary artery disease (CAD; also atherosclerotic heart disease) is the result of the accumulation of atheromatous plaques within the walls of the coronary arteries that supply the myocardium (the muscle of the heart) with oxygen and nutrients. It...
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| Tobacco smoking | Angina Pectoris | Nitroglycerin | ||||
| Old age | Cardiac arrest | Angioplasty | ||||
| Hypercholesterolemia | Coronary artery bypass surgery | |||||
| Heredity | Beta blocker | |||||
| more ▼ | ||||||
| x Color blindness |
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Brain damage | Difficulty distinguishing between blue and green |
Color blindness or color vision deficiency is the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. Color blindness affects many people in a population. "Color blind" is a term of art;...
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| Old age | Difficulty distinguishing between yellow and blue | |||||
| Parkinson's disease | Difficulty distinguishing between red and green | |||||
| Alcoholism | ||||||
| Alzheimer's disease | ||||||
| more ▼ | ||||||
| x Charcot-Marie-Tooth disease |
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Family History of Charcot-Marie-Tooth disease | Hammer toe |
Charcot–Marie–Tooth disease (CMT), also known as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN), hereditary sensorimotor neuropathy (HSMN), or peroneal muscular atrophy, is an inherited...
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| Foot drop | ||||||
| Scoliosis | ||||||
| Gastrointestinal Disorders | ||||||
| Tremor | ||||||
| more ▼ | ||||||
| x Lymphedema |
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Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes.
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| x Phenylketonuria |
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Microcephaly |
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. This enzyme is necessary to metabolize the amino...
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| Hypopigmentation | ||||||
| Seizure | ||||||
| Albinism | ||||||
| Hyperactivity | ||||||
| more ▼ | ||||||
| x Sickle-cell disease |
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Hispanic | Jaundice | Bone marrow transplant |
Sickle-cell disease (SCD), or sickle-cell anaemia (or anemia, SCA) or drepanocytosis, is an autosomal recessive genetic blood disorder with overdominance, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling...
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| Mediterranean race | Delayed milestone | Cyanate | ||||
| African American | Anemia | |||||
| African people | Pain | |||||
| Family History of Sickle Cell Anemia | Malaise | |||||
| more ▼ | ||||||
| x Von Hippel-Lindau disease |
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Von Hippel-Lindau Syndrome is an inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and...
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| x XYY syndrome |
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XYY syndrome is an aneuploidy (abnormal number) of the sex chromosomes in which a human male receives an extra Y-chromosome, giving a total of 47 chromosomes instead of the more usual 46. This produces a 47,XYY karyotype which occurs in 1 in 1000...
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| x Turner syndrome |
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Nondisjunction | Short stature |
Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis"), 45 XO, encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal...
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| Low-set ears | ||||||
| Hypothyroidism | ||||||
| Congenital heart disease | ||||||
| Webbed neck | ||||||
| more ▼ | ||||||
| x Fragile X syndrome |
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Fragile X syndrome (FXS), Martin–Bell syndrome, or Escalante's syndrome (more commonly used in South American countries), is a genetic syndrome that is the most common known single-gene cause of autism and the most common inherited cause of mental...
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| x Prader-Willi syndrome |
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Obesity | Psychotherapy |
Prader–Willi syndrome ( /ˈprɑːdər ˈvɪli/; abbreviated PWS) is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11–13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome....
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| Hypotonia | Speech therapy | |||||
| Polyphagia | Growth hormone | |||||
| Short stature | Hormone therapy | |||||
| Hypersomnia | Physical therapy | |||||
| more ▼ | more ▼ | |||||
| x Angelman syndrome |
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Family history of Angelman syndrome | Mental retardation | Speech therapy |
Angelman syndrome ( /ˈeɪndʒəl.mən/; abbreviated AS) is a neuro-genetic disorder characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and...
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| Sleep disorder | Anticonvulsant | |||||
| Developmental disability | Physical therapy | |||||
| Seizure | Cognitive behavioral therapy | |||||
| Speech disorder | ||||||
| more ▼ | ||||||
| x Canavan disease | Family History of Canavan disease | Mental retardation |
Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is...
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| Ashkenazi Jews | Paralysis | |||||
| Megalocephaly | ||||||
| Seizure | ||||||
| Hypotonia | ||||||
| more ▼ | ||||||
| x Joubert syndrome |
Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem ...
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| x Tay-Sachs disease |
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Ashkenazi Jews | Dysarthria |
Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant (known as infantile Tay–Sachs disease), it causes a progressive deterioration of mental and...
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| Cajun | Paralysis | |||||
| French Canadian | Ataxia | |||||
| Spasticity | ||||||
| Deafness | ||||||
| more ▼ | ||||||
| x Lactose intolerance |
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Child | Abdominal pain | Lactase |
Lactose intolerance, also called lactase deficiency and hypolactasia, is the inability to digest lactose, a sugar found in milk and to a lesser extent milk-derived dairy products.
Lactose intolerant individuals have insufficient levels of lactase,...
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| Black | Unintentional Weight Loss | |||||
| Hispanic | Nausea | |||||
| Asian | Eructation | |||||
| Indian American | Flatulence | |||||
| more ▼ | more ▼ | |||||
| x Wilson's disease |
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Genetic predisposition to Wilson's disease | Arthropathy | Zinc acetate |
Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces...
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| Hypercalciuria | Liver transplantation | |||||
| Parkinsonism | Dimercaprol | |||||
| Choreoathetosis | Penicillamine | |||||
| Fatty liver | Triethylene tetramine | |||||
| more ▼ | more ▼ | |||||
| x Vitiligo |
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Personal History of Pernicious Anemia | Depigmentation | Depigmentation |
Vitiligo ( /ˌvɪtɨˈlaɪɡoʊ/) is a condition that causes depigmentation of sections of skin. It occurs when melanocytes, the cells responsible for skin pigmentation, die or are unable to function. The cause of vitiligo is unknown, but research suggests...
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| Personal History of Hypothyroidism | Change of color in retina | Pimecrolimus | ||||
| Family History of Vitiligo | Premature hair whitening | Skin grafting | ||||
| Personal History of Addisons Disease | Loss of color of oral mucous membranes | Tacrolimus | ||||
| Autologous | ||||||
| more ▼ | ||||||
| x Hemochromatosis |
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Haemochromatosis (or hemochromatosis) type 1 (also HFE hereditary haemochromatosis or HFE-related hereditary haemochromatosis) is a hereditary disease characterized by excessive intestinal absorption of dietary iron resulting in a pathological...
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| x Abetalipoproteinemia |
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| x Phocomelia |
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Phocomelia (from Greek φώκη = "seal" plus μέλος (plural μέλεα) = "limb") is an extremely rare congenital disorder involving the limbs (dysmelia). Étienne Geoffroy Saint-Hilaire coined the term in 1836.
Although various numbers of factors can cause...
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| x Hernia |
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A hernia is the protrusion of an organ or the fascia of an organ through the wall of the cavity that normally contains it. There are different kinds of hernia, each requiring a specific management or treatment.
By far the most common hernias develop...
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| x Sly syndrome |
Sly syndrome, also called Mucopolysaccharidosis Type VII or MPS, is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme β-glucuronidase, a lysosomal enzyme. Sly syndrome belongs to a group of disorders known...
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| x Porphyria |
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The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. They manifest with either neurological complications or skin problems, or occasionally both....
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| x Warkany syndrome 2 |
A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.
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| x Alkaptonuria |
Alkaptonuria (black urine disease or alcaptonuria) is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase (EC 1.13...
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| x Brugada syndrome |
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The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. It is named by the Spanish cardiologists Pedro Brugada and Josep Brugada. It is the major...
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| x Ehlers-Danlos syndrome |
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Ehlers–Danlos syndrome (EDS) (also known as Cutis hyperelastica) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (Type I or III). The collagen in connective tissue helps tissues to resist...
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| x Glycogen storage disease |
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Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired. Genetic...
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| x Haemophilia A |
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Hemophilia A is an inherited deficiency in clotting factor VIII, which causes increased bleeding and usually affects males.
Hemophilia A is inherited as an X-linked recessive trait, and thus occurs in males and in homozygous females. However, mild...
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| x Progeria |
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Progeria (also known as "Hutchinson–Gilford Progeria Syndrome", "Hutchinson–Gilford syndrome", and "Progeria syndrome") is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word...
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| x Williams syndrome |
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Williams syndrome (WS or WMS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with...
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| x Cephalic disorder |
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Cephalic disorders (from the Greek word κεφάλη, meaning "head") are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic is a term that means "head" or "head end of the body."
Cephalic...
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| x Holoprosencephaly |
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Holoprosencephaly (HPE, once known as arhinencephaly) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the...
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| x Iniencephaly |
Iniencephaly is a type of cephalic disorder. It is a rare neural tube defect that combines extreme retroflexion (backward bending) of the head with severe defects of the spine.
The affected infant tends to be short, with a disproportionately large...
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