Rare Endocrinology News
IgG4-related dacryoadenitis and sialadenitis
IgG4-related dacryoadenitis and sialoadenitis (formerly called Mikulicz disease) is an IgG4-related disease characterized by inflammation of the lacrimal glands (which produce tears), parotid glands, and submandibular glands (two of the major salivary glands).[1] In some cases, it also affects other glands or organs.[1][2] The condition is usually painless, mainly causing mouth and eye dryness, and swelling…
Myotonia congenita
Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of myotonia congenita: Becker disease, which is…
Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis).[1][2] Some affected…
Neonatal progeroid syndrome
Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into…
Neuronal ceroid lipofuscinosis 6
Neuronal ceroid lipofuscinosis 6 (CLN6-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus),…
Craniometaphyseal dysplasia, autosomal dominant
Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia).[1][2] The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial…
Omsk hemorrhagic fever
Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is an infection that occurs primarily in the western Siberia regions of Omsk, Novosibirsk, Kurgan and Tyumen. People can become infected from tick bites, or from contact with the blood, feces, or urine of an infected or dead animal (most commonly a rodent who was…
Collins Pope syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2412 Definition Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal…
Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a rare disorder that affects the brain. It is part of a group of disorders known as leukodystrophies. Leukodystrophies are diseases that affect the white matter of the brain. The white matter contains nerve fibers (axons), surrounded by a type of sheath or covering…
Phocomelia ectrodactyly deafness sinus arrhythmia
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PIK3CA-related overgrowth spectrum
PIK3CA-related overgrowth spectrum (PROS) is a group of rare disorders that cause overgrowth of parts of the body, due to mutations in the PIK3CA gene. Specific disorders in this spectrum include:[1][2][3][4] Fibroadipose hyperplasia (also called fibroadipose overgrowth) CLOVES syndrome Megalencephaly-capillary malformation syndrome (MCAP syndrome) Hemihyperplasia‐multiple lipomatosis syndrome (HHML syndrome) Hemimegalencephaly Facial infiltrating lipomatosis (a congenital disorder that causes overgrowth…
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 1 (PCH1) is a genetic disease that affects the development of the brain. Babies and children with this disease have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which…
Congenital tracheomalacia
Congenital tracheomalacia is when an infant is born with weak cartilage around the windpipe (trachea) that makes it difficult to keep the airway open.[1] The trachea can collapse when breathing out. Symptoms vary from mild to severe and may include noisy breathing (stridor), shortness of breath, difficulty breathing, and bluish skin (cyanotic spells). Symptoms typically worsen…
Pulmonary alveolar microlithiasis
Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea),…
Congenital Zika syndrome
Congenital Zika syndrome is caused by exposure to the Zika virus before birth. This may happen if the mother is infected from a mosquito bite or through sexual contact with an affected partner. Signs and symptoms of congenital Zika syndrome include birth defects (like small head size) and other health and development problems.[1][2] Zika virus outbreaks are…
Curry Jones syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1553 Definition Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands…
Roifman syndrome
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Spastic paraplegia 1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2466 Definition A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of…
Kleiner Holmes syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2110 Definition Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first…
Acute alcohol sensitivity
Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently. It is most common in Asians.[1] These individuals accumulate acetaldehyde,…
Cutis verticis gyrata
Cutis verticis gyrata (CVG) refers to deep folds on the scalp that look similar to the folds of the brain.[1][2] It occurs more commonly in males, and most commonly develops after puberty, but before age 30. It may occur alone (isolated CVG) or in association with a variety of underlying conditions or treatments, including neuropsychiatric…
Hereditary congenital facial paresis
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D-2-hydroxyglutaric aciduria
D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria…
X-linked congenital stationary night blindness
X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus, and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over…
Schinzel type phocomelia
Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lower bone of the leg) or ulna (bone of the arm), having an underdeveloped (hypoplastic) pelvis, and having differences in…
Anodontia
Anodontia is a dental condition characterized by complete absence of teeth.[1][2] The primary (baby) or permanent (adult) teeth may be involved.[1] Anodontia is extremely rare when present in a pure form (without associated abnormalities). In most cases, the phenomenon is associated with a group of conditions called the ectodermal dysplasias.[1][2] In these cases, abnormalities are…
Spondylospinal thoracic dysostosis
Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with ‘crab-like’ configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth. This condition is…
Scurvy
Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include…
Tarsal carpal coalition syndrome
Tarsal carpal coalition syndrome (TCC) is a genetic condition characterized by fusion of the bones in the wrist (carpals), ankles (tarsals), and the fingers and toes (phalanges). Other bone abnormalities in the hands and feet may be present. Symptoms of TCC may include: stiffness and progressive immobility of the hands and feet and short stature. TCC is caused by…
Radioulnar synostosis-developmental delay-hypotonia syndrome
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ACDC
Arterial calcification due to deficiency of CD73, or ACDC, is a rare, adult-onset vascular disorder. People with ACDC have calcium build-up in the large vessels (mainly below the waist) and in the joints of the hands and feet. Signs and symptoms may include progressive pain and cramping in the calves, thighs, buttocks, feet, and/or hands.[1][2]…
Thalassemia
Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems.[1] There are two main types of thalassemia, alpha thalassemia and…
Doyne honeycomb retinal dystrophy
Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early…
Ribbing disease
Ribbing disease is a rare disease that causes bony growths to develop on the long bones. These bony growths most commonly affect the long bones of the lower legs, such as the thigh bone (femur) and shin bone (tibia) but can also affect the long bones of the arms. Signs and symptoms of the disease…
Fetal hydantoin syndrome
Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and…
Distal chromosome 18q deletion syndrome
Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are…
Wrinkly skin syndrome
Wrinkly skin syndrome is a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby’s “soft spot” on the top of his/her head). Other associated signs and symptoms vary widely. Case reports suggest that this condition is often inherited in an autosomal recessive fashion. It can be caused by mutations in…
Leprechaunism
Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, preand postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.[1][2][3]
Musculocontractural Ehlers-Danlos syndrome
Adducted thumb and clubfoot syndrome (ATCS) is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development.[1][2] This condition is caused by mutations in the CHST14 gene.[2][3]
Duplication of urethra
Duplication of urethra is a very rare condition where there is an extra urethra, instead of the normal one. Urethral duplications can be classified into three types: incomplete urethral duplication (type 1), complete urethral duplication (type 2), and urethral duplication as a result of two bladdersThe urethra is the tube that connects the urinary bladder to the genitals for the removal…
Reardon Wilson Cavanagh syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1188 Definition This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. Epidemiology It has been described in two families. Differential diagnosis The clinical picture is similar to that seen in…
X-linked cerebral adrenoleukodystrophy
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139396 Definition A subtype of X-linked adrenoleukodystrophy (X-ALD), a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency. Epidemiology X-CALD manifests in 70% of male and 2% of…
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple congenital anomalieshypotoniaseizures syndrome type 2 (MCAHS2) is a genetic neurodevelopmental disorder characterized by distinctive facial features, low muscle tone (hypotonia) at birth, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs), and various other problems involving the central nervous system, heart, and urinary system. Specific symptoms (especially those not…
Aspartylglycosaminuria
Aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. Infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems, and intellectual disability. Symptoms result from a deficiency in an enzyme called aspartylglycosaminidase,…
Ethylmalonic encephalopathy
Ethylmalonic encephalopathy (EE) causes damage to the brain, nerves, and blood vessels. Symptoms are present at birth and tend to get worse over time. These include low muscle tone, spasms of the arms and legs, seizures, and developmental delay. Blood vessel damage causes tiny red spots under the skin (petechiae) and blue discoloration in the hands…
ALG11-CDG (CDG-Ip)
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280071 Definition A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional…
Hepatic encephalopathy
Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.[1] Signs and symptoms may be debilitating, and they can begin mildly and gradually, or occur suddenly and severely.[2] They may include personality or mood changes, intellectual…
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 231556 Definition Late-onset localized jonctional epidermolysis bullosaintellectual disability syndrome is a rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with…
Alveolar soft part sarcoma
Alveolar soft part sarcoma (ASPS) is a rare, slow-growing soft tissue sarcoma. Although it has been described in a variety of locations, it most commonly develops on the lower extremities in adults and in the head and neck region of children. ASPS generally presents as a soft, pain-less lump that is often not associated with…
Castleman disease
Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a “localized” condition that is generally confined to a single set of lymph nodes, while multicentric CD is a “systemic” disease that affects multiple sets of lymph…
Familial progressive cardiac conduction defect
Familial progressive cardiac conduction defect (PCCD) is a is a cardiac (heart) conduction disorder that may progress to complete heart block. Affected people may not have any symptoms, or the condition may cause shortness of breath, dizziness, fainting, abdominal pain, heart failure, or sudden death. Mutations in several genes, including the SCN5A, SCN1B and TRPM4 genes,…
Anophthalmos with limb anomalies
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1106 Definition A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. Epidemiology The prevalence is unknown but more than 35 cases have been reported to date, mainly from consanguineous…
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 163654 Definition Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with…
Oculoectodermal syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3339 Definition Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital. Visit the Orphanet disease page for more resources.
Fetal minoxidil syndrome
Fetal minoxidil syndrome is a group of symptoms that may be found in a newborn when a mother has taken minoxidil (Loniten) during pregnancy.[1] Minoxidil is a medication that can be used to treat hypertension (increased blood pressure) and alopecia (hair loss).[2][3] A few cases of maternal use of minoxidil have been published in the medical literature…
Arthrogryposis renal dysfunction cholestasis syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2697 Definition A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. Epidemiology The prevalence is unknown but less than 100 patients have…
Lichen planopilaris
Lichen planopilaris (LPP) affects the scalp and hair. It is a form of lichen planus, an inflammatory condition affecting the skin and mucous membranes. Symptoms may include scaly skin and redness around hair follicles, bald patches, and pain, burning, or itching on the scalp. Tiny, red bumps (papules) may appear around hair clusters. LLP can cause…
Rare Endocrinology News