Rare Pediatrics News
Acute megakaryoblastic leukemia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 518DefinitionA rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological…
Warfarin resistance
Warfarin resistance is a condition that is characterized by a high tolerance for a “blood-thinning” medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. Some people with a warfarin resistance do not respond to the drug at all, while others can achieve…
Small Intestinal Adenocarcinoma
Small intestine adenocarcinoma is one type of small bowel cancer, usually occurring in the duodenum or jejunum, that begins in the gland cells. The small intestine is part of the body’s digestive system, which also includes the esophagus, stomach, and large intestine.[1] The exact cause is still unknown, but it may be due to DNA…
Adrenomyodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 977 Definition An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death….
X-linked dystonia-parkinsonism/Lubag
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53351 Definition X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course. Epidemiology…
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with mottled pigmentation is a rare form of epidermolysis bullosa (EB). EB is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching.[2310] In EB simplex with mottled pigmentation,…
Internal carotid agenesis
Internal carotid agenesis occurs when one or both of the blood vessels that supply blood to the brain (internal carotid arteries) do not develop (agenesis). The missing carotid artery can be on either side of the body. People missing one or both of the internal carotid arteries may not have any symptoms, because the body develops other blood…
ALG9-CDG (CDG-IL)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79328 Definition A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal…
Hyperlysinemia
Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. Hyperlysinemia is caused by mutations in the AASS gene. It…
Lowry Wood syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1824 Definition A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature….
Verloes Bourguignon syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2899 Definition An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent…
Herpes zoster oticus
Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and in whom the varicella-zoster virus becomes active again.[1] Herpes zoster oticus is caused by the spread of the virus to facial nerves and…
Norrie disease
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth.[1][2] Additional symptoms may occur in some cases, although this varies even among individuals in the same family.[2] Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features.[2][3] Norrie…
Familial cutaneous collagenoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53296 Definition Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence….
Hereditary antithrombin deficiency
Hereditary antithrombin deficiency, also known as antithrombin III deficiency or AT III deficiency, is a disorder in which individuals are at increased risk for developing blood clots. The type of blood clots seen in individuals with this condition are typically clots that form in the deep veins of the leg (deep vein thrombosis or DVT) and clots…
Sphingosine phosphate lyase insufficiency syndrome
Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a very rare condition that affects the kidneys, adrenal glands and nervous system. Symptoms vary from individual to individual, but most people with SPLIS have signs of abnormal kidney and adrenal gland function, which can include a buildup of extra fluid, vomiting and diarrhea. Some people with SPLIS…
Waterhouse–Friderichsen syndrome
Waterhouse–Friderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock.[1] Most patients with this condition are children, although adults may rarely be affected.[2] It is deadly if not treated immediately.[1][2]
XK aprosencephaly
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3469 Definition XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip),…
Vascular Ehlers-Danlos syndrome
Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs.[1][2] Vascular EDS is usually caused by a change (mutation)…
Game Friedman Paradice syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3035 Definition Growth delay hydrocephaly lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped…
Generalized peeling skin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 263543 Definition Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B)…
SYNGAP1-related non-syndromic intellectual disability
SYNGAP1-related non-syndromic intellectual disability is a condition that primarily affects the central nervous system. It is characterized by moderate to severe intellectual disability that is usually apparent in the first few years of life. Some affected people may also experience seizures and/or autism spectrum disorder. This condition is caused by changes (mutations) in the SYNGAP1…
Salcedo syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2613 Definition A severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency. Visit the Orphanet disease page for…
Autosomal recessive candidiasis familial chronic mucocutaneous
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 457088 Definition A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph…
GMPPA-CDG
GMPPAcongenital disorder of glycosylation (GMPPA-CDG) is a rare disease, part of the group of congenital disorders of glycosylation. It is characterized by lack of tears (alacrima), difficulty in swallowing due to problems in the esophagus muscle (achalasia), and intellectual disability, starting at birth or in early infancy. More variable features include low muscle tone (hypotonia),…
Osteopetrosis autosomal recessive 2
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.[1][2] Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature,…
Granulomatous Amebic Encephalitis
Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of…
Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. This condition occurs in up to 5% of those who are exposed to heparin….
Baraitser-Winter syndrome
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Hyper-IgD syndrome
Hyper IgD syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. It is considered an auto-inflammatory disease, with recurrent episodic or chronic unexplained inflammation, characterized by periodic episodes of fever, and other symptoms such as joint pain, swollen lymph nodes, skin rash, headaches, and abdominal pain. Most episodes last several…
Brachydactyly type A2
Brachydactyly type A2 is a very rare condition affecting the middle bone (middle phalanx) of the index finger and the second toe. Typically, people affected by brachydactyly type A2 have very short (hypoplastic) middle bones of these digits. In some individuals, the bone above the middle phalanx (distal phalanx) is shifted as well, so that…
Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition characterized by abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis); very small colon (microcolon); and decreased or absent intestinal movements (intestinal peristalsis). Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium (the…
Hydranencephaly
Hydranencephaly is a rare condition in which the brain’s cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis,…
Bifid nose
A bifid nose is a relatively uncommon malformation that is characterized by the nose being divided into two parts. There is a large degree of variability in the severity of the condition, ranging from a minimally noticeable groove down the center of the nasal tip to a complete clefting of the underlying bones and cartilage, resulting…
Jackhammer esophagus
Jackhammer esophagus is a motility disorder of the esophagus, the tube that connects the mouth with the stomach, classified under esophageal spasms. Esophageal spasms are divided in 2 main types, diffuse esophageal spasm and hypertensive peristalsis or nutcracker esophagus. Jackhammer esophagus is the most serious manifestation of the hypertensive type and it is also known as…
Hypomelia mullerian duct anomalies
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Meige syndrome
Meige syndrome is a rare, neurological condition characterized by blepharospasm (abnormal movement of the eyelids); oromandibular dystonia (spasms in the jaw and tongue); and sometimes, cervical dystonia. Symptoms and severity can vary.[1][2] The exact cause of Meige syndrome is unknown, but researchers suspect that it is due to a combination of genetic and environmental factors….
Multicentric carpotarsal osteolysis syndrome
Multicentric carpotarsal osteolysis syndrome is a very rare condition characterized by progressive loss of some of the bones of the hand and feet, usually the carpal (bones of the wrist) and tarsal bones (bones of the ankle), as well as chronic kidney (renal) failure in many cases. The bone problems lead to deformity and disability. Some…
Brachycephalofrontonasal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1519 Definition Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow’s peak, heavy and broad eyebrows,…
Postnatal progressive microcephaly, seizures, and brain atrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 402364 Definition Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus,…
Braddock Jones Superneau syndrome
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X-linked intellectual disability, Najm type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 163937 Definition Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar…
Kindler syndrome
Kindler syndrome is a rare type of epidermolysis bullosa, a group of inherited conditions that cause fragile and blistering skin. Kindler syndrome causes skin to blister beginning in early infancy. Other symptoms may include increased sensitivity to light (photosensitivity); patchy discoloration of the the skin and small clusters of blood vessels (poikiloderma); thickening and hardening…
CAD-CDG
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 448010 Definition CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early…
Congenital amegakaryocytic thrombocytopenia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3319 Definition An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later…
COG1-CDG (CDG-IIg)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 263508 Definition COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism….
Legius syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137605 Definition Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling. Epidemiology The prevalence of Legius syndrome is…
Carnitine palmitoyltransferase 2 deficiency
Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.[1] The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure…
Papular mucinosis
Papular mucinosis is a rare skin disorder characterized by deposits of mucin in the skin. The terms “papular mucinosis” and “lichen myxoedematosus” are generally used interchangeably to describe the occurrence of this condition as a localized and less severe form, while the term scleromyxoedema refers to a generalized, more severe form.[1][2] Signs and symptoms of…
Loose anagen hair syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168 Definition Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the…
Syndactyly Cenani Lenz type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3258 Definition Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Epidemiology Fewer than 30…
Mandibuloacral dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2457 Definition Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or…
Sialidosis type I
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop…
Median nodule of the upper lip
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2699 Definition Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion. Epidemiology It has been described through several generations from three families in Japan. Clinical…
Spinal meningioma
Spinal meningioma is a rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women.[1] Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headache and recent onset of seizures….
Rare Pediatrics News