Rare Endocrinology News
N-acetylglutamate synthase deficiency
N-acetylglutamate synthase deficiency (NAGS) is type of metabolic disorder that affects the processing of proteins and removal of ammonia from the body. When proteins are processed by the body, ammonia is formed. Individuals with NAGS are not able to remove ammonia from the body and have symptoms due to toxic levels of ammonia that build up…
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency (SAHH deficiency) is a muscle disease associated with high blood levels of methionine and creatine kinase (CK). The main symptoms are psychomotor delay, behavioral disorders, severe myopathy, and delayed myelination from birth. Myelin is the layer covering the axons of nerves and plays an important role in nerve impulse conduction. SAHH deficiency is caused by…
Van den Ende Gupta syndrome
Van den Ende Gupta syndrome is present at birth and affects the facial features and skeletal system. Symptoms of Van den Ende Gupta syndrome include underdeveloped eyelids and jaw bones; long and bent fingers; cleft palate; and other bone abnormalities. Intelligence is average. Very little is known about how this condition changes over time. Van…
Ichthyosis-intellectual disability-dwarfism-renal impairment
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2278 Definition Ichthyosisintellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. Visit the…
Punctate palmoplantar keratoderma type I
Punctate palmoplantar keratoderma type I is a rare condition that affects the skin. It is a sub-type of punctate palmoplantar keratoderma.[1][2][3] Signs and symptoms typically begin in early adolescence or later and include hard, round bumps of thickened skin on the palms of the hands and soles of the feet. These bumps can cause pain…
Intravascular papillary endothelial hyperplasia
Intravascular papillary endothelial hyperplasia (IPEH) is a non-cancerous tumor that occurs due to the overgrowth of the cells that line the blood vessels. Symptoms of IPEH may include a soft mass under the skin and reddish-blue coloring on the skin. Other symptoms may depend on the location of the IPEH. The most common areas of…
Ichthyosis bullosa of Siemens
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 455 Definition Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth. Epidemiology Less than 30 families have been reported in…
Juvenile primary lateral sclerosis
Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progress over a period of 15 to…
Tel Hashomer camptodactyly syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3292 Definition Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Epidemiology Up to 2005, 20 cases had been reported. Clinical description…
COG8-CDG (CDG-IIh)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 95428 Definition The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to…
MED13L haploinsufficiency syndrome
MED13L haploinsufficiency syndrome is a genetic syndrome that causes intellectual disability, speech problems, and behavioral problems. People with the syndrome usually have distinctive facial features, such as eyes that slant upwards, a flat nasal bridge with a bulb-like tip, very small chin (micrognathia), large and lowset ears, and broad forehead.[1] Most children with the syndrome have…
LCHAD deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia),…
Carpotarsal osteochondromatosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2767 Definition Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. Visit the Orphanet disease page for more resources.
Leukoencephalopathy dystonia motor neuropathy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 163684 Definition Leukoencephalopathydystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait…
Schaap Taylor Baraitser syndrome
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Lichen sclerosus
Lichen sclerosus is a chronic skin disorder that is more common in women, most often affecting the external part of the vagina (vulva) or the area around the anus. In men, it typically affects the tip of the penis. It can occur at any age but is usually seen in women over age 50. Some…
Timothy syndrome
Timothy syndrome is a disorder that affects the heart, digits (toes and fingers), and nervous system (brain and nerves). It is a type of long QT syndrome. Long QT syndrome refers to a prolonged QT interval measurement seen on the electrocardiogram. Symptoms of Timothy syndrome include fusion of the skin between fingers or toes (syndactyly), distinctive facial features,…
Central neurocytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 73256 Definition Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those…
Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1574 Definition Retinal degeneration-nanophthalmosglaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family….
Spastic diplegia cerebral palsy
Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood, and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in the legs. The arm muscles are generally less affected…
Malonyl-CoA decarboxylase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 943 Definition Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). Epidemiology It is a very rare disorder that has been described in less than 20 patients. Clinical description This condition…
Charcot-Marie-Tooth disease type 2F
Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles…
Mast cell activation syndrome
Mast cell activation syndrome (MCAS) causes a person to have repeated severe allergy symptoms affecting several body systems. In MCAS, mast cells mistakenly release too many chemical agents, resulting in symptoms in the skin, gastrointestinal tract, heart, respiratory, and neurologic systems. Mast cells are present throughout most of our bodies and secrete different chemicals during…
Chester porphyria
Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in…
Muscle eye brain disease
Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth (congenital muscular dystrophy).[1][2] Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability, a buildup of fluid in the brain (hydrocephalus), and…
OSMED Syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1427 Definition Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. Epidemiology The…
Chromosome 11q deletion
Chromosome 11q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 11. 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 occur…
17q23.1q23.2 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb…
Chromosome 1p duplication
Chromosome 1p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material 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 duplication and which genes are involved. Features that often occur in…
Mosaic variegated aneuploidy syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies).[1][2] Only about 50 cases have been described in the medical literature.[1][3] Features include severe…
Chromosome 5p duplication
Chromosome 5p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 5. 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…
Chromosome 9p duplication
Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) 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…
Chudley Rozdilsky syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3068 Definition Intellectual disability-myopathyshort stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature,…
Nephrogenic Systemic Fibrosis
Nephrogenic systemic fibrosis is a condition that affects different parts of the body, particularly the skin. Symptoms of the condition may include progressive swelling and tightening of the skin, sometimes resulting in contractures, and pruritis (itching). The skin findings are similar to those seen in patients with scleroderma. Nephrogenic systemic fibrosis was first described in 1997.[1] Being exposed to gadolinium-containing contrast…
Tarsal tunnel syndrome
Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the…
Tethered cord syndrome
Tethered cord syndrome is a rare neurological condition. The severity of the condition and the associated signs and symptoms vary from person to person. In some cases, symptoms may be present at birth (congenital), while others may not experience symptoms until later in adulthood. Features of the condition may include foot and spinal abnormalities; weakness…
Cutis marmorata telangiectatica congenita
Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by patches of marbled-looking skin (cutis marmarota), small widened blood vessels under the skin (telangiectasia) and varicose veins (phlebectasia).[1][2] The skin findings most often occur on the legs, but may also occur on the arms and trunk. The face…
Oto-palato-digital syndrome type 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90650 Definition A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Epidemiology To date,…
Osteopetrosis and infantile neuroaxonal dystrophy
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Conductive deafness with malformed external ear
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3216 Definition A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing…
Congenital ectodermal dysplasia with hearing loss
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Yorifuji Okuno syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2255 Definition Pancreatic hypoplasia-diabetescongenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)….
Conotruncal heart malformations
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2445 Definition A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition…
Legg-Calve-Perthes disease
Legg-Calve-Perthes disease (LCPD) occurs when blood supply to the ball of the thighbone in the hip (femoral head) is disrupted. Without an adequate blood supply, the bone cells die.[1] LCPD usually occurs in children between the ages of 4 and 10.[2] Early symptoms may include limping; pain in the hip, thigh or knee; and reduced range of…
Hair defect-photosensitivity-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1408 Definition Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration. Epidemiology It has been described…
Hantavirus pulmonary syndrome
Hantavirus pulmonary syndrome (HPS) is a severe, respiratory disease caused by infection with a hantavirus. People can become infected with a hantavirus through contact with hantavirus-infected rodents or their saliva, urine and/or droppings. Early symptoms universally include fatigue, fever and muscle aches (especially in the thighs, hips, and/or back), and sometimes include headaches, dizziness, chills,…
Congenital heart block
Congenital heart block is a rare condition that affects the heart’s electrical system, which controls and coordinates its pumping function. In infants affected by this condition, the electrical signal that spreads across the heart and causes it to contract and pump blood, is slowed or completely interrupted. This can interfere with the heart’s normal rate…
Donnai-Barrow syndrome
Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). Other features may include diaphragmatic hernia, omphalocele, and/or…
20p12.3 microdeletion syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261295 Definition 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism. Epidemiology It has been clinically and molecularly characterized in 3 patients. Clinical…
Acanthosis nigricans muscle cramps acral enlargement
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Focal dermal hypoplasia
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small…
Acral peeling skin syndrome
Acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. “Acral” refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and legs.[1][2] The peeling is usually present from birth, but can appear…
Gianotti Crosti syndrome
Gianotti Crosti syndrome (GCS) is a rare childhood skin condition characterized by a papular rash with blisters on the skin of the legs, buttocks, and arms. It typically affects children between 9 months and 9 years of age. Skin lesions typically last at least 10 days and often last for several weeks. The lesions are…
ACTH-independent macronodular adrenal hyperplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 189427 Definition A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent…
3M syndrome
3M syndrome is a growth disorder that causes short stature, characteristic facial features, and skeletal abnormalities. Intelligence is normal.[1][2][3][4] The name comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux.[4] 3M syndrome is caused by mutations in one of three genes: CUL7, OBSL1, and CCDC8.[1][2][3] It is inherited in…
Acute myeloblastic leukemia with maturation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98834 Definition A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater…
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type 2 (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat (adipose tissue) in the body. Symptoms typically develop around puberty, after having normal adipose tissue in childhood.[1] FPLD2 causes a loss of adipose tissue from the limbs, torso, buttocks and hips, while causing a buildup of adipose…
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal…
21-hydroxylase deficiency
21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). CAH is a group of disorders that affect how the adrenal glands work. In 21-hydroxylase deficiency, a missing enzyme leads to overproduction of specific hormones made by the adrenal glands. There are three types of 21-hydroxylase deficiency that vary by the severity of symptoms….
Afibrinogenemia
Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or coagulation factor I), which is needed for the blood to clot.[1][2] Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and…
Aland island eye disease
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Rare Endocrinology News