Congenital disorders

Achondroplasia is a genetic disorder whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an enlarged head with prominent forehead (frontal bossing) and underdevelopment of the midface (midface hypoplasia). Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skelet

condition present at birth regardless of cause; human disease or disorder developed prior to birth

group of genetic connective tissue disorders

rare genetic disorder

group of conditions that can occur in a person whose mother drank alcohol during pregnancy

Human medical condition

human medical condition

heart conduction disease characterized by abnormal ECG findings

extremely rare connective tissue disease

human disease characterized by an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels

Cyclopia (named after the Greek mythology characters cyclopes), also known as alobar holoprosencephaly, is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities. Its incidence is 1 in 16,000 in born animals and 1 in 200 in miscarried fetuses.

thumb|upright|Sirenomelia Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid's tail, hence the nickname.

Situs inversus is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement of internal organs is known as situs solitus. Many people with situs inversus have no medical symptoms resulting from the condition, although cardiac problems are the most common complication. Until the advent of modern medicine, it was usually undiagnosed.

Aniridia is a condition characterized by the absence or near absence of the iris, the colored, muscular ring in the eye that controls the size of the pupil and regulates the amount of light entering the eye. This absence results in a primarily black appearance of the central eye. Aniridia can be congenital, typically affecting both eyes, or caused by a penetrant injury. Congenital aniridia is not simply an iris defect but a more complex condition affecting multiple parts of the eye, with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and t

severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells

rare disease

Human disease

disease

human disease

monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face

rare congenital condition where an individual with XX chromosomes is born with a penis and testes

a rare congenital disease characterized by external gaze palsy

acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull

In medicine, agenesis () refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Many forms of agenesis are referred to by individual names, depending on the organ affected:

Clitoridectomy or clitorectomy is the surgical removal, reduction, or partial removal of the clitoris. It is rarely used as a therapeutic medical procedure, such as when cancer has developed in or spread to the clitoris. Commonly, non-medical removal of the clitoris is performed during female genital mutilation.

human disease

genetic disease that has material basis in mutations in the MODY genes disrupting insulin production

syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities

fetus-like tissue mass within a fetus, abnormality of twin pregnancy

syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch

rare disease

human disease

thumb|A chick with two beaks and three eyes Diprosopus (, "two-faced", from , , "two" and , [neuter], "face", "person"; with Latin ending), also known as craniofacial duplication (cranio- from Greek , "skull", the other parts Latin), is an extremely rare congenital disorder whereby parts (accessories) or all of the face are duplicated on the head.

syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts

syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients

medical condition

autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability

human disease

autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.

congenital disorder in humans caused by abnormal fetal development of the lower spine

autosomal recessive congenital disorder featuring insufficiency of tears, adrenal insufficiency, and esophageal dysfunction

X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities

human disease

Camptodactyly is a medical condition that causes one or more digits (fingers or toes) to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints.

acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull

rare type of Craniopagus

medical condition

human disease

human disease

medical condition

medical condition

rare disease

Polymelia is a birth defect in which an affected individual has more than the usual number of limbs. It is a type of dysmelia. In humans and most land-dwelling vertebrates, this means having five or more limbs. The extra limb is most commonly shrunken or deformed. The term is from Greek πολυ- "many", μέλεα "limbs".

the displacement of an organ from its normal position

Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. It is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral hemisphere. Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain. Derived from Greek roots, the word porencephaly means 'holes in the brain'. The cysts and cavities (cystic brain lesions) are more likely to be the result of destructive (encephaloclastic) cause, but can also be from abnormal development (malformative), direct damage, inflammation, or hemorrhage. The cysts an

characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14

French woman with human excessive hair growth (1588-?)

human disease