Rare Pediatrics News
Chromosome 17q deletion
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1597DefinitionA partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round…
Misophonia
Misophonia, translated to “hatred of sound,” is a chronic condition that causes intense emotional reactions to specific sounds. The most common triggers include those provoked by the mouth (chewing gum or food, popping lips), the nose (breathing, sniffing, and blowing) or the fingers (typing, clicking pen, drumming on the table). Reactions to the specific sound…
Chromosome 1p deletion
Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often…
Chromosome 9q duplication
Chromosome 9q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 9. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people…
Myocarditis
Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused…
Nephronophthisis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 655 Definition A chronic tubulointerstitial nephropathy that progresses to end-stage renal failure. Epidemiology Prevalence is 1/100 000 individuals. Clinical description The disease is both clinically and genetically heterogeneous. Three main clinical forms have been described….
Classical-like Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome (EDS due to tenascin-X (TNX) deficiency) is a form of Ehlers Danlos Syndrome (EDS) characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising. Other signs and symptoms might include: muscle weakness and wasting (atrophy), and protrusion of part of the stomach…
Hereditary motor and sensory neuropathy type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 64751 Definition Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty…
Pontocerebellar hypoplasia type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166068 Definition Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and…
Uveal coloboma-cleft lip and palate-intellectual disability
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Persistent genital arousal disorder
Persistent genital arousal disorder (PGAD) in men may be considered as the condition of priapism and unwanted ejaculatory fluids being released without any sexual interest. In women there is still no consensus about a formal definition, but some of the experts propose that in women it should be defined as a rare, unwanted, and intrusive…
Retinal cone dystrophy 3B
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Sitosterolemia
Sitosterolemia is a rare inherited condition in which plant sterols accumulate in the blood and tissues. Plant sterols, including sitosterol, stigmasterol, and campesterol, are fatty substances found in vegetable oils and nuts. Individuals with sitosterolemia have extremely high levels of sitosterol (30 to 100 times higher than normal), along with mildly to moderately elevated levels…
Dysfibrinogenemia
Dysfibrinogenemia is a coagulation (clotting) disorder characterized by having an abnormal form of fibrinogen.[1] Fibrinogen is a protein produced by the liver which helps control bleeding by helping blood clots to form.[2] Having abnormal fibrinogen results in defective clot formation and can cause an increased or decreased ability to clot. Dysfibrinogenemias may be inherited (congenital)…
Spastic paraplegia with precocious puberty
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Megaloblastic anemia due to dihydrofolate reductase deficiency
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Renal agenesis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 411709 Definition Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by…
Spinocerebellar ataxia 12
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98762 Definition Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated…
Crohn’s disease
Crohn’s disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn’s disease may include intestinal blockage, fistulas, anal…
Hanhart syndrome
Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical…
Cutaneous mastocytosis
Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype.[1][2][3] Cutaneous…
Ehrlichiosis
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Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the…
Simosa cranio facial syndrome
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Hemifacial hyperplasia strabismus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1241 Definition Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild…
Congenital extrahepatic portosystemic shunt
Congenital extrahepatic portosystemic shunt (CEPS) occurs when the blood vessels that go to the liver do not form correctly during fetal development. Toxins, that are normally removed by the liver, build up in the blood stream and can lead to symptoms such as decreased oxygen to the brain (hypoxia) and loss of brain function (hepatic…
Subcutaneous panniculitis-like T-cell lymphoma
Subcutaneous panniculitis-like Tcell lymphoma (SPTCL) is a rare type of lymphoma that mainly affects the skin.[1][2] Lymphomas are cancers that result from a type of white blood cell that grows out of control. In SPTCL, people develop multiple painless nodules in the fat layer under the skin and can these cause swelling. This is known as…
Peeling skin syndrome
Peeling skin syndrome (PSS) refers to a group of conditions that causes skin to peel and tear easily. The main symptom is continual peeling of the skin. The peeling skin is usually painless. Additional symptoms may depend on the form of PSS. Some people with PSS have itching, redness, and scarring. The symptoms of PSS can…
Absent patella
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86789 Definition Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date. Visit the Orphanet disease page…
Swyer-James syndrome
Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries.[1][2] Affected individuals may…
Acheiropody
Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. Individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius, ulna, fibula, and of all the…
Methylmalonic acidemia
Methylmalonic acidemia refers to a group of inherited conditions in which the body can’t breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and bouts of serious illness called decompensation events or metabolic crises.[1] Symptoms of a decompensation event include poor feeding, vomiting, trouble breathing, and lack of energy (lethargy)….
Trichodental syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3351 Definition Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant. Visit…
Lysinuric protein intolerance
Lysinuric protein intolerance (LPI) is a genetic condition that is caused by the body’s inability to digest the amino acids lysine, arginine, and ornithine. These are some of the building blocks of protein. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting…
Acrofacial dysostosis Rodriguez type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1788 Definition A rare multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The…
Unna-Thost palmoplantar keratoderma
Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there…
Viral hemorrhagic fever
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 341 Definition Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg’s disease that first occurred…
Acute flaccid myelitis
Acute flaccid myelitis (AFM) is a condition that affects the spinal cord leading to muscle weakness and loss of reflexes. Most people who develop AFM have had a viral illness with flu-like symptoms one to four weeks before symptoms of AFM. Symptoms of AFM include sudden onset (acute) of weakness in the arm(s) or leg(s),…
Autosomal dominant centronuclear myopathy
Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. In people with a mild form, features of the condition generally don’t develop…
Langer mesomelic dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2632 Definition A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. Epidemiology The exact prevalence is unknown. More than 100 cases have…
Spinal muscular atrophy type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83420 Definition Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the…
Epidermolysis bullosa, lethal acantholytic
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 158687 Definition Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters. Epidemiology Prevalence is unknown but 3…
WAGR syndrome
WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability.[1] WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and Range of developmental…
Ectrodactyly polydactyly
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Multiple epiphyseal dysplasia 2
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166002 Definition Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but…
Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones.[1][2] PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain.[3] Some people…
Tricho-dento-osseous syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3352 Definition Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of…
Mycosis fungoides
Mycosis fungoides is a disease in which Tcell lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin. This condition is one of the most common types of T-cell lymphoma. Mycosis fungoides is characterized by a scaly, red rash that develops on the skin, particularly on areas that are not usually…
Wagner syndrome
Wagner syndrome is a hereditary eye disorder that leads to progressive vision loss. It is characterized by changes to the thick, clear gel that fills the eyeball (the vitrous), in which it becomes thin and watery and appears empty.[1] The first signs and symptoms usually appear in childhood, but onset may be as early as age 2. Signs…
Anaplastic ganglioglioma
Anaplastic ganglioglioma (AGG) is a very rare type of brain tumor that is a type of ganglioglioma. In general, gangliogliomas are classified as grade I or low grade tumors, meaning that they grow slowly and are considered benign. Anaplastic gangliogliomas, however, are considered grade III or high grade tumors, which means that they are usually aggressive, malignant tumors. The…
Goldenhar disease
Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal…
Jones syndrome
Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss.[1] The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing.[2] Jones syndrome…
Angioma hereditary neurocutaneous
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1062 Definition A disorder characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal…
Precocious puberty
Precocious puberty is when a person’s sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of precocious puberty is not always…
Laryngeal cleft
A laryngeal cleft is a rare malformation involving the larynx (known as the voice box) and the esophagus (known as the food pipe). Normally, when the larynx develops, it is completely separate from the esophagus so that swallowed foods travel directly through the esophagus into the stomach. A laryngeal cleft occurs when these structures do not develop normally in an embryo,…
Familial tumoral calcinosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53715 Definition Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically,…
Aphalangia partial with syndactyly and duplication of metatarsal IV
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Febrile Ulceronecrotic Mucha-Habermann disease
Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA).[1][2][3][4][5][6] PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and…
Jejunal atresia
Jejunal atresia is a birth defect in a newborn characterized by partial or complete absence of the membrane connecting the small intestines to the abdominal wall (the mesentery). It causes a portion of the small intestines (the jejunum) to twist around an artery that supplies blood to the colon (the marginal artery). This leads to an…
Laband syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3473 Definition Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. Epidemiology Forty-four patients have been reported…
Rare Pediatrics News