A

• Aicardi syndrome
  Aicardi syndrome
  Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms...
  
  
• Albinism
  Albinism
  Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
  
  
• Amelia and hemimelia
  Amelia (birth defect)
  Amelia is the birth defect of lacking one or more limbs. It can also result in a shrunken or deformed limb. For example, a child might be born without an elbow or forearm. The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all...
  
  
• Amniotic Band syndrome
  Amniotic band syndrome
  Amniotic band syndrome is a congenital disorder caused by entrapment of fetal parts in fibrous amniotic bands while in utero.-Epidemiology:Amniotic banding affects approximately 1 in 1,200 live births...
  
  
• Anencephaly
  Anencephaly
  Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp...
  
  
• Angelman syndrome
  Angelman syndrome
  Angelman syndrome is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements , frequent laughter or smiling, and usually a happy demeanor....
  
  
• Aposthia
  Aposthia
  Aposthia is a rare congenital condition in humans, in which the foreskin of the penis is missing.Toward the end of the nineteenth century, E. S. Talbot claimed in Medicine that aposthia among Jews was evidence for the now-discredited Lamarckian theory of evolution...
  
  
• Arnold-Chiari malformation
  Arnold-Chiari malformation
  Arnold–Chiari malformation, or often simply Chiari malformation, is a malformation of the brain. It consists of a downward displacement of the cerebellar tonsils through the foramen magnum , sometimes causing non-communicating hydrocephalus as a result of obstruction of cerebrospinal fluid outflow...
  
  

B

• Bannayan-Zonana syndrome
  Bannayan-Zonana syndrome
  Bannayan–Riley–Ruvalcaba syndrome is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas...
  
  
• Bardet-Biedl syndrome
  Bardet-Biedl syndrome
  The Bardet–Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.-Summary of the...
  
  
• Barth syndrome
  Barth syndrome
  Barth syndrome , also known as 3-Methylglutaconic aciduria type II, is a X-linked genetic disorder.-Presentation:Though not always present, the cardinal characteristics of this multi-system disorder include: cardiomyopathy , neutropenia Barth syndrome (BTHS), also known as 3-Methylglutaconic...
  
  
• Basal Cell Nevus syndrome
• Beckwith-Wiedemann syndrome
  Beckwith-Wiedemann syndrome
  Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr...
  
  
• Benjamin syndrome
  Benjamin syndrome
  Benjamin Syndrome is a type of multiple congenital anomaly/mental retardation syndrome. It is characterized by hypochromic anemia with mental deficiency and various craniofacial and other anomalies. It can also include heart murmur, dental caries and splenic tumors.It was first described in the...
  
  
• Bladder exstrophy
  Bladder exstrophy
  Bladder exstrophy is a congenital anomality in which part of the urinary bladder is present outside the body. It is rare, occurring once every 10,000 to 50,000 live births with a 2:1 male:female ratio. The diagnosis involves a spectrum of anomalies of the lower abdominal wall, bladder, anterior...
  
  
• Bloom syndrome
  Bloom syndrome
  Bloom's syndrome , also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive chromosomal disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. The condition was discovered and first described by dermatologist Dr...
  
  

C

• Cat Eye syndrome
  Cat eye syndrome
  Cat Eye Syndrome is a rare condition caused by the short arm and a small section of the long arm of human Chromosome 22 being present three or four times instead of the usual two times. The term "Cat Eye" syndrome was coined because of the particular appearance of the vertical colobomas in the...
  
  
• Sotos syndrome Cerebral Gigantism
• CHARGE syndrome
  CHARGE syndrome
  CHARGE syndrome , is a syndrome caused by a genetic disorder. It was first described in 1979.In 1981, the term "CHARGE" came into use as an acronym for the set of unusual congenital features seen in a number of newborn children...
  
  
• Chromosome 16
  Chromosome 16 (human)
  125px|rightChromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 16 spans about 90 million base pairs and represents just under 3 % of the total DNA in cells.Identifying genes on each chromosome is an active area of genetic...
  
   Abnormalities
• Chromosome 18
  Chromosome 18 (human)
  125px|rightChromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 85 million base pairs and represents about 2.5 percent of the total DNA in cells.Identifying genes on each chromosome is an active area of genetic...
  
   Abnormalities
• Chromosome 20
  Chromosome 20 (human)
  Chromosome 20 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 20 spans around 63 million base pairs and represents between 2 and 2.5 percent of the total DNA in cells...
  
   Abnormalities
• Chromosome 22
  Chromosome 22 (human)
  Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of Chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 49 million DNA base pairs and representing between 1.5 and 2 % of the total DNA in cells.In 1999,...
  
   Abnormalities
• Cleft lip/palate
• Club foot
  Club foot
  A club foot, or congenital talipes equinovarus , is a congenital deformity involving one foot or both. The affected foot appears rotated internally at the ankle. TEV is classified into 2 groups: Postural TEV or Structural TEV....
  
  
• Congenital adrenal hyperplasia
  Congenital adrenal hyperplasia
  Congenital adrenal hyperplasia refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands ....
  
   (CAH)
• Congenital Central Hypoventilation Syndrome
• Congenital Diaphragmatic Hernia
  Congenital diaphragmatic hernia
  Congenital diaphragmatic hernia is a congenital malformation of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni's hernia, diaphragm eventration and central tendon defects of the diaphragm...
  
   (CDH)
• Congenital insensitivity to pain with anhidrosis
  Congenital insensitivity to pain with anhidrosis
  Congenital insensitivity to pain with anhidrosis is an extremely rare inherited disorder of the nervous system which prevents the sensation of pain, heat, cold, or any real nerve-related sensations ; however, patients can still feel pressure. CIPA is the fourth type of hereditary sensory and...
  
   (CIPA)
• Conjoined twins
  Conjoined twins
  Conjoined twins are identical twins whose bodies are joined in utero. A rare phenomenon, the occurrence is estimated to range from 1 in 50,000 births to 1 in 100,000 births, with a somewhat higher incidence in Southwest Asia and Africa. Approximately half are stillborn, and a smaller fraction of...
  
  
• Costello syndrome
  Costello syndrome
  Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and mental retardation, distinctive facial features, unusually flexible joints, and loose folds of extra skin,...
  
  
• Craniopagus parasiticus
  Craniopagus parasiticus
  Craniopagus parasiticus is a medical condition in which a parasitic twin head with an undeveloped body is attached to the head of a developed twin.-Cases:...
  
  
• Cri du chat
  Cri du chat
  Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by...
  
   syndrome
• Cyclopia
  Cyclopia
  Cyclopia is a rare form of holoprosencephaly and is a congenital disorder characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities...
  
  
• Cystic fibrosis
  Cystic fibrosis
  Cystic fibrosis is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine...
  
  

H

• Harlequin type ichthyosis
  Harlequin type ichthyosis
  Harlequin-type ichthyosis , a skin disease, is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin...
  
  
• Heart disorders (Congenital heart defects)
• Hemifacial Microsomia
  Hemifacial microsomia
  Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It can occur on one side of the face or both. If severe it can lead to difficulties in breathing, obstructing the trachea and requiring a...
  
  
• Holoprosencephaly
  Holoprosencephaly
  Holoprosencephaly is a cephalic disorder in which the prosencephalon fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy...
  
  
• Huntington's disease
  Huntington's disease
  Huntington's disease, chorea, or disorder , is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea...
  
  
• Hirschsprung's Disease
  Hirschsprung's disease
  Hirschsprung's disease , or congenital aganglionic megacolon is a serious medical problem where the enteric nervous system is missing from the end of the bowel. The enteric nervous system is a complex network of neurons and glia that controls most aspects of intestinal function...
  
  , or congenital aganglionic megacolon
  Megacolon
  Megacolon is an abnormal dilation of the colon . The dilatation is often accompanied by a paralysis of the peristaltic movements of the bowel...
  
  
• Hypoglossia
  Hypoglossia
  Hypoglossia is a short, incompletely developed tongue. It can occur either as an isolated malformation or in association with other deformities, particularly limb defects in a syndrome known as oromandibular limb hypogenesis syndrome.-References:...
  
  
• Hypomelanism
  Albinism
  Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
  
   or hypomelanosis (albinism)
• Hypospadias
  Hypospadias
  Hypospadias is a birth defect of the urethra in the male that involves an abnormally placed urinary meatus...
  
  

I

• Imperforate anus
  Imperforate anus
  An imperforate anus or anal atresia is a birth defect in which the rectum is malformed. Its cause is unknown.-Features:There are several forms of imperforate anus:* A low lesion, in which the colon remains close to the skin...
  
  
• Incontinentia pigmenti
  Incontinentia pigmenti
  Incontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system...
  
  
• Intestinal neuronal dysplasia
  Intestinal neuronal dysplasia
  Intestinal neuronal dysplasia is an inherited disease of the intestine that effects one in 3000 children and adults...
  
  
• Ivemark syndrome
  Ivemark syndrome
  Asplenia with cardiovascular anomalies or Ivemark syndrome, also known as Right Atrial Isomerism, is an example of a heterotaxy syndrome...
  
  

N

• Nager's Syndrome
• Nail-Patella syndrome
  Nail-patella syndrome
  Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail-patella" can be very misleading because the syndrome often affects many other areas of the...
  
  
• Neonatal Jaundice
  Neonatal jaundice
  Neonatal jaundice or Neonatal hyperbilirubinemia is a yellowing of the skin and other tissues of a newborn infant. A bilirubin level of more than 85 umol/l manifests clinical jaundice in neonates whereas in adults a level of 34 umol/l would look icteric...
  
  
• Neurofibromatosis
  Neurofibromatosis
  Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors that may be benign or may cause serious damage by compressing nerves and other tissues...
  
  
• Neuronal Ceroid-Lipofuscinosis
• Noonan syndrome
  Noonan syndrome
  Noonan Syndrome is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome ; however, the genetic causes of Noonan syndrome and Turner syndrome...
  
  

P

• Pallister-Killian syndrome
  Pallister-Killian syndrome
  Pallister–Killian syndrome is an extremely rare genetic disorder occurring in humans. Pallister-Killian occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome. This leads to the development of tetrasomy 12p...
  
  
• Pectus Excavatum
  Pectus excavatum
  Pectus excavatum is the most common congenital deformity of the anterior wall of the chest, in which several ribs and the sternum grow abnormally. This produces a caved-in or sunken appearance of the chest...
  
  
• Pierre Robin syndrome
  Pierre Robin syndrome
  Pierre Robin Sequence , also known as Pierre Robin Malformation, is a congenital condition of facial abnormalities in humans. PRS is a sequence: a chain of certain developmental malformations, one entailing the next...
  
  
• Polydactyly
  Polydactyly
  Polydactyly or polydactylism , also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes....
  
  
• Prader-Willi syndrome
  Prader-Willi syndrome
  Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
  
  
• Proteus syndrome
  Proteus syndrome
  Proteus syndrome, also known as Wiedemann's syndrome , is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body....
  
  
• Prune belly syndrome
  Prune belly syndrome
  Prune belly syndrome is a rare, genetic, birth defect affecting about 1 in 40,000 births. About 97% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is...
  
  

R

• Radial aplasia
  Radial aplasia
  Radial aplasia is a congenital defect which affects the formation of the radius bone in the arm. The radius is the lateral bone which connects to the wrist via articulation with the carpal bones. A child born with this condition has either a short or absent radius bone in one or both of his or her...
  
  
• Rett syndrome
  Rett syndrome
  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 . Repetitive hand movements, such as wringing and/or repeatedly putting hands into...
  
  
• Robinow syndrome
  Robinow syndrome
  Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N....
  
  
• Rubinstein-Taybi syndrome
  Rubinstein-Taybi syndrome
  Rubinstein-Taybi Syndrome , also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected...
  
  

S

• Schizencephaly
  Schizencephaly
  Schizencephaly is a rare grey matter malformation of the brain. It belongs to the group of malformations of the central nervous system.-Presentation:...
  
  
• Sirenomelia
  Sirenomelia
  Sirenomelia, alternatively known as Mermaid Syndrome, is a very rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid's tail....
  
  
• Situs inversus
  Situs inversus
  Situs inversus is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement is known as situs solitus...
  
  
• Smith-Lemli-Opitz syndrome
  Smith-Lemli-Opitz syndrome
  Smith-Lemli-Opitz syndrome is an autosomal recessive metabolic and developmental congenital disorder that causes the inability to correctly produce or synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme.-Symptoms:The signs and symptoms of SLOS syndrome vary widely...
  
  
• Smith-Magenis syndrome
  Smith-Magenis syndrome
  Smith–Magenis Syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate mental retardation, distinctive facial features, sleep disturbances, and behavioral problems...
  
  
• Spina bifida
  Spina bifida
  Spina bifida 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 large enough, this allows a portion of the spinal cord to protrude through...
  
  
• Strabismus
  Strabismus
  Strabismus is a condition in which the eyes are not properly aligned with each other. It typically involves a lack of coordination between the extraocular muscles, which prevents bringing the gaze of each eye to the same point in space and preventing proper binocular vision, which may adversely...
  
  
• Sturge-Weber syndrome
  Sturge-Weber syndrome
  Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal...
  
  
• Syphilis, Congenital
  Congenital syphilis
  Congenital syphilis is syphilis present in utero and at birth, and occurs when a child is born to a mother with secondary syphilis. Untreated syphilis results in a high risk of a bad outcome of pregnancy, including mulberry molars in the fetus. Syphilis can cause miscarriages, premature births,...
  
  

T

• Teratoma
  Teratoma
  A teratoma is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. There are rare occasions when not all three germ layers are identifiable...
  
  
• Treacher Collins syndrome
  Treacher Collins syndrome
  Treacher Collins syndrome , also known as Treacher Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher Collins syndrome is found in about 1 in 10,000 births, ....
  
  
• Trichothiodystrophy
• Triple-X Females
• Trisomy 13
• Trisomy 9
  Trisomy 9
  Trisomy 9 is a chromosomal disorder caused by having three copies of chromosome number 9. It can appear with or without mosaicism.-Characteristics:...
  
  
• Turner syndrome
  Turner syndrome
  Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
  
  

Other Birth Defects

• Cleft lip / palate
• Club foot
  Club foot
  A club foot, or congenital talipes equinovarus , is a congenital deformity involving one foot or both. The affected foot appears rotated internally at the ankle. TEV is classified into 2 groups: Postural TEV or Structural TEV....
  
  

See also

• ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
• List of ICD-9 codes 740-759: Congenital anomalies
• Rare disease
  Rare disease
  A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...