Rare Pediatrics News
Infantile liver failure syndrome 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 370088DefinitionA rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic…
Double outlet left ventricle
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Fibular hypoplasia and complex brachydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2639 Definition A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an…
Adenosarcoma of the uterus
Adenosarcoma of the uterus is a rare tumor of the uterus that typically originates in the lining of the uterus (endometrium).[1] This type of tumor is characterized by both benign (noncancerous) and malignant components (low-grade sarcoma).[1][2] Typical symptoms in affected individuals may include abnormal vaginal bleeding, an enlarged uterus, and tissue protruding from the external…
Neonatal adrenoleukodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 44 Definition A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). Epidemiology…
Eales disease
Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of…
Agammaglobulinemia, microcephaly, and severe dermatitis
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Autoimmune gastrointestinal dysmotility
Autoimmune gastrointestinal dysmotility (AGID) is a type of dysautonomia that may be idiopathic (cause unknown) or associated with cancer elsewhere in the body, most commonly small cell lung cancer.[1] Signs and symptoms may include early satiety (feeling full quickly), nausea, vomiting, bloating, diarrhea, constipation and involuntary weight loss.[2] Management options for AGID include treating specific symptoms, treatment…
Ectodermal dysplasia, hidrotic, Christianson-Fourie type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1808 Definition Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by trichoand onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows,…
Albinism
Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. Other symptoms can include…
Hypersensitivity pneumonitis
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Epidermodysplasia verruciformis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 302 Definition Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. Epidemiology The exact…
N-acetyl-alpha-D-galactosaminidase deficiency type III
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79281 Definition A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. Epidemiology Prevalence of this disorder is not known but less than 20 cases have…
Alzheimer disease
Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. Alzheimer disease currently affects about 5 million people.[1] About 75 percent of Alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in…
Ewing sarcoma
Ewing sarcoma is a type of cancerous tumor that mainly affects children and young adults. Ewing sarcoma usually occurs in the long bones of the arms and legs, pelvis, or chest. Symptoms may include swelling over the location of the tumor, and pain which gets worse over time. Other symptoms may depend on the size and location of…
Hereditary amyloidosis
Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosis is characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function.[1] In hereditary amyloidosis, amyloid deposits most often occur in tissues…
Prothrombin-related thrombophilia
Prothrombin-related thrombophilia affects the way the blood clots. Individuals who have a thrombophilia have an increased risk to form abnormal blood clots in blood vessels. Symptoms of prothrombin-related thrombophilia include a higher than average risk to develop blood clots in the deep veins of the legs (deep venous thrombosis) and blood clots in the lungs…
Androgenetic alopecia
Androgenetic alopecia is a common form of hair loss in both men and women. In men, hair is usually lost in a well-defined pattern, beginning above both temples and is usually referred to as male-pattern baldness. Over time, the hairline recedes to form a characteristic ‘M’ shape. Hair also thins near the top of the…
Upington disease
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3408 Definition Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from…
Tufted angioma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1063 Definition A very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood. Visit the Orphanet disease page for more resources.
Familial isolated hypoparathyroidism
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2238 Definition Familial isolated hypoparathyroidism (FIH) is a rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects. Clinical description…
Anophthalmia megalocornea cardiopathy skeletal anomalies
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Fanconi Bickel syndrome
Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use.[1] People with Fanconi Bickel syndrome do not…
Coloboma of macula with type B brachydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1471 Definition Coloboma of macula brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type…
Aquagenic syringeal acrokeratoderma
Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning…
FG syndrome
FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. “FG” represents the surname initials of the first individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great…
Crigler-Najjar syndrome type 2
Crigler-Najjar syndrome type 2 (CN-2) is a rare disorder that causes elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin normally is made by the body when old red blood cells are broken down. However, people with CN-2 develop hyperbilirubinemia even when red blood cells are not excessively broken down, because they have too little of a…
Florid cemento-osseous dysplasia
Florid cemento-osseous dysplasia (FCOD) is a condition that occurs in the jaw bone, especially close to where the teeth are formed.[1][2] People with FCOD develop lesions in the jaw, were spots of normal bone are replaced with a mix of connective tissue and abnormal bone.[1][3] The lesions are often found in equal numbers and size…
Johnston Aarons Schelley syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1485 Definition A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early…
FOXG1 syndrome
FOXG1 syndrome is a neurological condition characterized by impaired development and structural brain abnormalities. Features vary from case to case, and may include an unusually small head size (microcephaly), a specific pattern of brain development (including partial or complete agenesis of the corpus callosum, reduced folds on the surface of the brain, and reduced white…
Prosthetic joint infection
A prosthetic joint infection (PJI) is a rare complication of joint replacement surgery, also known as arthroplasty. Arthroplasty is done to help relieve pain and restore function in a severely diseased joint, such as a knee, hip or shoulder. Approximately 0.5 to 1 percent of people with replacement joints develop a PJI. Infections can occur early…
Miller syndrome
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the…
Glaucoma sleep apnea
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2085 Definition Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). Visit the Orphanet disease page…
Autosomal dominant optic atrophy and cataract
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67036 Definition A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional…
Polycystic ovarian syndrome
Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman’s menstrual cycle, ability to have children, hormones, heart, blood vessels, and appearance. Women with this condition typically have high levels of hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. The cause of PCOS is unknown, but probably involves a…
Grant syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2097 Definition Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no…
Spastic paraplegia 5A
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100986 Definition Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes…
Pfeiffer Mayer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2921 Definition Preaxial polydactyly-colobomataintellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is…
Polycystic kidneys, severe infantile with tuberous sclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88924 Definition Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)….
Plasmacytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86855 Definition Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of…
Hereditary mucoepithelial dysplasia
Hereditary mucoepithelial dysplasia (HMD) is a very rare condition that affects the skin, hair, mucosa (areas of the body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms begin in infancy and vary in severity from person to person. The most common symptoms of this condition include hair loss (alopecia), patchy red…
Bazex-Dupre-Christol syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 113 Definition Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. Epidemiology So far, 143 cases have been reported, mostly from France and Belgium. Clinical description The disease manifests during…
Porokeratosis of Mibelli
Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened…
Hydrolethalus syndrome
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Pulmonary atresia with ventricular septal defect
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1207 Definition Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD)…
Human T-cell leukemia virus type 1
Human Tcell leukemia virus, type 1 (HTLV-1) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, some affected people may later develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions.[1] HTLV-1 is spread by blood transfusions,…
Meralgia paresthetica
Meralgia paresthetica is a condition characterized by numbness, tingling, and a burning pain in the outer thigh. Symptoms may worsen after walking or standing.[1] The condition usually affects only one side of the body, but both sides may be affected in up to 20% of cases.[2] Meralgia paresthetica is caused by compression of the lateral…
ROHHAD
ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system. As the name suggests, the key features include dramatic weight gain over a sixto…
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1200 Definition Choanal atresia deafness cardiac defects dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial…
Hypocalcemia, autosomal dominant
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 428 Definition A rare disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria. Epidemiology Prevalence is unknown, but the disease…
Ruvalcaba syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3121 Definition Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature,…
Hypomelanosis of Ito
Hypomelanosis of Ito, also called incontinentia pigmenti achromians, causes streaked, whirled, or mottled patches of light-colored skin. These skin changes often develop within the first two years of life. Other symptoms may include varying degrees of learning disability, seizures, increased body hair, scoliosis, and strabismus. The exact cause is not known. Many people with hypomelanosis…
Interstitial cystitis
Interstitial cystitis (IC) is a chronic condition that causes painful urinary symptoms. Symptoms and severity can vary. Some people may have only mild discomfort, or feel tenderness or pressure in the bladder or pelvis. Others may experience intense bladder pain, urgent or frequent needs to urinate, or pain during sexual intercourse.[1][2] Symptoms may be constant, or they…
Idiopathic CD4 positive T-lymphocytopenia
Idiopathic CD4 positive T-lymphocytopenia (ICL) is a rare disorder of the immune system. People with ICL have low levels of a type of white blood cell, called a CD4+ T cell. These low levels can not be explained by other causes of immunodeficiency, including HIV infection.[1] T cells have many jobs in our immune system, such as attacking…
Bronchiolitis obliterans organizing pneumonia
Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli).[1] BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry…
Ulnar-mammary syndrome
Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development…
Thrombotic thrombocytopenic purpura, acquired
Thrombotic thrombocytopenic purpura (TTP), acquired is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. These clots can cause serious medical problems if they…
Brachydactyly
Brachydactyly is a general term characterized by disproportionately short fingers and toes. It can occur as an isolated finding or as part of a complex syndrome. Many different types of brachydactyly have been identified. Some result in short stature and others are associated with other hand malformations, such as syndactyly, polydactyly, or reduction defects. The…
Sezary syndrome
Sezary syndrome is an aggressive form of cutaneous T-cell lymphoma which is a group of disorders that occur when T-cells (a type of white blood cell) become cancerous and affect the skin. It is characterized by a widespread red rash that may cover most of the body, the presence of cancerous T cells (called Sezary…
PEHO syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2836 Definition PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. Epidemiology The incidence in Finland has been estimated at 1…
Primrose syndrome
Primrose syndrome was originally described in 1982 and fewer than a dozen cases have been reported in the literature. The most distinctive clinical feature is a calcification (hardening) of the outer ear. Other findings include characteristic facial features, a large head (macrocephaly), and intellectual disability. A variety of neurological signs such as brain calcifications, autism,…
Bronchogenic cyst
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2357 Definition Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum. Visit the Orphanet disease page for more resources.
Spastic paraplegia 8
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100989 Definition A pure or complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may…
IQSEC2
IQSEC2 is a genetic condition that causes intellectual disability and sometimes other physical, neurological, or psychiatric symptoms.[1] People with this condition can have seizures that are often difficult to control with medications. Other symptoms may include motor and language development delay, regression of learning abilities, autistic-like behavior, characteristic hand movements, and behavioral problems. Physical features…
Multiple sulfatase deficiency
Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton.[1][2] The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with symptoms developing soon after birth. The late-infantile type is…
Camptobrachydactyly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1319 Definition Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well…
Kaposiform lymphangiomatosis
Kaposiform lymphangiomatosis (KLA) is a rare type of tumor and vascular malformation that results from the abnormal development of the lymphatic system.[1] The lymphatic system is part of the immune system made up of vessels that help to protect the body from infection and foreign substances. KLA involves multiple parts of the body, especially the…
Fallopian tube cancer
Fallopian tube cancer develops in the tubes that connect a woman’s ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecologic cancers. Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor. Cancer can begin in any of…
Waardenburg syndrome type 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 896 Definition A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of…
DPM3-CDG (CDG-Io)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 263494 Definition DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term). Visit the Orphanet…
Toxocariasis
Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis when the larvae…
Laing distal myopathy
Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in…
Rare Pediatrics News