Rare Pediatrics News
Marchiafava Bignami disease
Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain).[1][2] The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life.[2][3] Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures…
Adams-Oliver syndrome
Adams-Oliver syndrome (AOS) is a rare disease characterized by an abnormality of skin development (areas of missing skin on the scalp called aplasia cutis congenita) and malformations of the hands and feet (terminal transverse limbs defects). The aplasia cutis may involve only the skin or include the skull under the skin. The terminal transverse limb…
Drug induced dyskinesia
Drug induced dyskinesia is an involuntary movement disorder. Signs and symptoms include repetitive and irregular motions of the mouth, face, limbs and/or trunk.[1] Treatment with antipsychotic drugs and levodopa (commonly used to treat Parkinson disease) are well recognized causes of drug-induced dyskinesia.[1][2][3] Dyskinesia develops in around 40% of people with Parkinson’s disease who have been on levodopa treatment…
Adenoid cystic carcinoma
Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, a type of cancer that begins in glandular tissues. It most commonly arises in the major and minor salivary glands of the head and neck.[1] It can also occur in the breast, uterus, or other locations in the body.[1][2] Symptoms depend on the tumor‘s location. Salivary gland…
3-beta-hydroxysteroid dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase (3BHSD) deficiency is a form of congenital adrenal hyperplasia, a group of conditions that interfere with the body’s ability to make hormones. People with this condition lack many of the hormones made in the gonads (testes or ovaries) and the adrenal glands. There are three types of 3BHSD deficiency the salt-wasting form, non-salt-wasting form,…
Neural tube defects
Neural tube defects (NTDs) refers to a group of abnormalities resulting from abnormal development of the brain, spine and/or spinal column. During the development of an affected embryo, a structure called the neural tube does not close completely as it should, resulting in a hole somewhere along the spinal column. Specific examples of types of…
Stomach cancer
Stomach cancer, also called gastric cancer, is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the stomach. Most people with early stomach cancer have no signs or symptoms of the condition. In advanced stages, symptoms may include indigestion; nausea and vomiting; difficulty swallowing; feeling full after eating small amounts of…
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. JEB is separated into two categories: the Herlitz type and the Non-Herlitz type.[1] The Herlitz type of JEB is very severe, and individuals with this condition often do…
Penis agenesis
empty
Ectodermal dysplasia trichoodontoonychial type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1818 Definition Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation,…
Periodontal Ehlers-Danlos syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75392 Definition Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. Clinical description EDS type VIII is the rarest form of EDS and…
Primary hyperoxaluria type 1
Primary hyperoxaluria type 1 (PH1) is a rare disorder that mainly affects the kidneys. It results from buildup of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. It combines with calcium, forming…
Pontocerebellar hypoplasia type 6
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166073 Definition Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and…
Alpha-ketoglutarate dehydrogenase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 31 Definition A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio….
GOSR2-related progressive myoclonus ataxia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280620 Definition A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia,…
Exercise-induced hyperinsulinemic hypoglycemia
Exercise induced hyperinsulinemic hypoglycemia is characterized by a sudden and exaggerated spike in insulin and drop in blood sugar levels. The condition is triggered by vigorous exercise. Signs and symptoms include fainting (syncope),[1] shakiness, nervousness, sweating, dizziness or light-headedness, sleepiness, confusion, difficulty speaking, anxiety, and weakness.[2]
Anaplastic astrocytoma
Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. Signs and symptoms vary depending on the location and size of…
Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3363 Definition Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Visit the Orphanet disease page…
Fatal familial insomnia
Fatal familial insomnia (FFI) affects the thalamus, the part of the brain that controls the sleep-wake cycle. Symptoms typically begin between the ages of 40-60 years. The most common symptoms are sleep disturbance, psychiatric problems, weight loss, and balance problems. Other symptoms include high blood pressure, excess sweating, and difficulty controlling body temperature. These symptoms tend…
Aniridia renal agenesis psychomotor retardation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1064 Definition An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis…
Progressive myoclonic epilepsy
Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy.[1] Other features include dementia, dystonia, and trouble…
Pyridoxine-dependent epilepsy
Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy….
Barraquer-Simons syndrome
Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen.[1] Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness.[1] It affects females more often than males. The fat loss usually has a 18 month course, but can…
Progeroid syndrome Petty type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2963 Definition Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide…
Fibro-adipose vascular anomaly
A fibro-adipose vascular anomaly (FAVA) is a rare mass that develops within a muscle. It is made up of abnormal blood vessels and tough, fibrous, fatty tissue. It most often involves a single limb, which may appear slightly enlarged. Common signs and symptoms include pain, loss of mobility, and visible veins. Diagnosis is often delayed…
Apocrine carcinoma
Apocrine carcinoma is a cancer of a sweat gland. Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body.[1][2] The cause of apocrine carcinoma is unknown. Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in color and slowly…
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1B (PHP1B) is a disorder characterized by lack of response (resistance) to parathyroid hormone (PTH) and other hormones such as thyroid-stimulating hormone (TSH). Resistance mainly occurs in the kidneys, causing low blood calcium levels (hypocalcemia), high blood phosphate levels (hyperphosphatemia), and elevated PTH levels (hyperparathyroidism). Some people with PHP1B also have elevated TSH levels due to TSH resistance.[1][2]…
Fibrosing mediastinitis
Fibrosing mediastinitis is a condition that affects the area between the lungs (mediastinum) which contains the heart, large blood vessels, windpipe (trachea), esophagus, and lymph nodes. People with fibrosing mediastinitis have varying amounts of scar tissue in the mediastinum which may cause problems for the organs located there.[1] For example, some affected people may develop…
Arhinia choanal atresia microphthalmia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1135 Definition A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Visit the Orphanet disease page for more resources.
Pityriasis lichenoides chronica
Pityriasis lichenoides chronica (PLC) is a skin disease that causes the development of small, scaling, raised spots (papules) on the skin. PLC is the relatively mild form of the disease pityriasis lichenoides. A person with PLC tends to have multiple episodes of papules on the skin lasting for months or a few years, meaning the…
Superior mesenteric artery syndrome
Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum.[1] Symptoms vary based on severity, but can be severely debilitating.[2] Symptoms may…
Post Polio syndrome
Post polio syndrome (PPS) is a condition that affects polio survivors years after recovery from the initial polio illness.[1] Symptoms and severity vary among affected people and may include muscle weakness and a gradual decrease in the size of muscles (atrophy); muscle and joint pain; fatigue; difficulty with gait; respiratory problems; and/or swallowing problems.[1][2] Only a…
Microcephaly brain defect spasticity hypernatremia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2523 Definition Microcephaly-brain defectspasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia…
Childhood apraxia of speech
Childhood apraxia of speech occurs in children and is present from birth. It appears to be more common in boys than girls.[1] Children with this condition have difficulty planning and producing the precise, refined, and specific movements of the tongue, lips, jaw, and palate that are necessary for intelligible speech.[2] In many cases, the underlying cause…
Galactokinase deficiency
Galactokinase deficiency (GALK), a mild type of galactosemia, is an inherited disorder that impairs the body’s ability to process and produce energy from a simple sugar called galactose. If babies with GALK eat foods containing galactose, undigested sugars build up in the blood.[1] Galactose is present in many foods, including all dairy products, many baby formulas, and…
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female…
Pyoderma gangrenosum
Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn’s disease, polyarthritis (an inflammation of several joints together),…
Gnathodiaphyseal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 53697 Definition Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal…
Autosomal dominant distal renal tubular acidosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93608 Definition A rare inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. Epidemiology The prevalence is unknown. Clinical description Disease onset occurs in…
Trichorhinophalangeal syndrome type 1
Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder.[1] TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped…
HIVEP2-related intellectual disability
HIVEP2-related intellectual disability is a neurological disorder characterized by intellectual disability, developmental delay, and variable physical features. Early symptoms include poor muscle tone (hypotonia) and delays in the devlopment of motor skills like sitting, standing, and walking. Speech is also affected, with many children never talking or saying only a few words. Common physical features include crossed and…
Syndactyly type 3
Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused…
2-methylbutyryl-CoA dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of…
Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome (GOSHS) is a very rare genetic condition characterized by a swollen, irritated colon (megacolon); characteristic facial features; a small head, and intellectual disability.[1] Most people with GOSHS also are born with Hirschsprung disease, a condition in which the colon is missing nerve cells, leading to intestinal blockage.[2] Some patients with this condition have a…
Autosomal recessive spastic ataxia 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 254343 Definition A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Visit the Orphanet disease page for more resources.
Spinocerebellar ataxia 37
empty
Granulomatous lobular mastitis
Granulomatous lobular mastitis is a rare inflammatory disease of the breast. This disease usually affects women of child-bearing age or those who use oral contraceptive medication. It can be confused with breast cancer, so it is often misdiagnosed and proper treatment is delayed.[1][2][3] The main symptoms include a palpable mass, skin or nipple retraction, and…
Young syndrome
Young syndrome is a condition characterized by male infertility, damaged airways in the lungs (bronchiectasis), and inflammation of the sinuses (sinusitis). Male infertility in Young syndrome is secondary to obstructive azoospermia, a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid, due to a physical obstruction in the…
Spondyloenchondrodysplasia with immune dysregulation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1855 Definition Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous…
Hepatoblastoma
Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss…
Bare lymphocyte syndrome
empty
Spondylometaphyseal dysplasia with cone-rod dystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85167 Definition Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual…
Brachydactyly type C
Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the…
Spondyloepimetaphyseal dysplasia with multiple dislocations
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93360 Definition Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment…
Hodgkin lymphoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98293 Definition Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of Bcell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. Epidemiology HL…
Convulsions, benign familial infantile, 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 306 Definition Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. Epidemiology Although BFIE cases…
Synovial sarcoma
Synovial sarcoma is a rare and aggressive soft tissue sarcoma. In the early stages of the condition, it may cause no noticeable signs or symptoms. However, as the tumor grows larger, affected people may notice a lump or swelling. In some cases, the tumor can limit range of motion or cause numbness and/or pain if…
Bethlem myopathy
Bethlem myopathy is a rare disease affecting the skeletal muscles and connective tissue. The disease is characterized by slowly progressive muscle weakness and joint stiffness (contractures). It most often affects the fingers, wrists, elbows, and ankles.[1][2] Signs and symptoms may begin before birth (with decreased fetal movements), shortly after birth (with low muscle tone or torticollis), in…
Teratoma with malignant transformation
A teratoma with malignant transformation (TMT) is a tumor that develops from germ cells when they grow and divide abnormally, forming a mass. Approximately 6% of teratomas develop into TMTs by a process called malignant transformation, when some of the cells in the teratoma become cancerous. TMTs can occur anywhere in the body, but most are located in the testes…
Hyperacusis
Hyperacusis is a hearing disorder that results in difficulty tolerating sounds that would not bother most people. This condition may occur due to many different causes, such as head injury, viral infections, or neurological disorders. In some people with hyperacusis, sounds are perceived as being much louder than they would be by someone without this disorder….
Tranebjaerg Svejgaard syndrome
Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner. Treatment is based on the signs and symptoms present in…
Hyperprolinemia type 2
Hyperprolinemia type 2 results in an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a…
Bixler Christian Gorlin syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2213 Definition Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Epidemiology Nine cases have been reported in the literature in…
Hypoplastic right heart syndrome
Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart…
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is present at birth and mainly involves the development of the eyelids. Symptoms of BPES include a narrow eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the lower eyelid (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus). Because the eyelids cannot open…
48,XXYY syndrome
48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. In addition, affected individuals have behavioral problems such as…
Specific antibody deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 70593 Definition Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR). Epidemiology Although the prevalence is not really known, around 100 cases have…
Brachydactyly elbow wrist dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1275 Definition Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly….
Lupus erythematosus tumidus
Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus.[1] Tumid erythematosus lupus is characterized by smooth, non-scarring, pinkto violet-colored pimples (papules) on the skin without any other apparent skin changes, such as scarring. Patients…
Riboflavin transporter deficiency
Riboflavin transporter deficiency is a progressive neurodegenerative disease characterized by paralysis of the cranial nerves, sensorineural deafness, and signs of damage to other nerves. Symptoms may begin from infancy to early adulthood and worsen over time.[1][2] When the condition begins in infancy, the first symptom often is breathing problems, which can be life-threatening. When it…
Spondylothoracic dysostosis
Spondylothoracic dysostosis (STD) is a rare condition that affects the bones of the spine and the ribs.[1] The term “Jarcho-Levin syndrome” in many cases is used as a synonym for STD, and sometimes as a synonym for another condition known as spondylocostal dysostosis, which has several common features with STD. Also, the term “Jarcho-Levin syndrome” is…
Calvarial hyperostosis
empty
King Denborough syndrome
The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance.[1] Although the cause of King-Denborough syndrome is not fully understood, at least some cases have been attributed to the ryanodine receptor gene (RYR1), which has been tied to malignant hyperthermia and central core…
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a neurological disorder. The syndrome gets its name from the different parts of the body it usually affects:[1][2][3] Cerebellar ataxia: inflammation of the cerebellum, the part of the brain that helps control the coordination of muscle movement Areflexia: loss of reflexes …
PMM2-CDG (CDG-Ia)
Congenital disorder of glycosylation type Ia (CDG-Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family. Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal…
Leiomyosarcoma
Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells.[1] Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and environmental factors appear…
Rare Pediatrics News