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Pfeiffer Palm Teller syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2871 Definition Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures…
Rothmund-Thomson syndrome
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth. Signs and symptoms can include a characteristic facial rash (poikiloderma); sparse hair, eyelashes, and/or eyebrows; short stature; skeletal (bone) and dental abnormalities; cataracts; premature aging; and an increased risk for cancer, especially osteosarcoma.[1][2] Gastrointestinal problems…
Monogenic diabetes
The most common forms of diabetes, type 1 and type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes [1][2]. Environmental factors, such as obesity in the case of type 2 diabetes, also play a part in the development of polygenic forms of diabetes. Polygenic forms of…
Chromosome 22q duplication
Chromosome 22q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 22. 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…
Mulibrey Nanism
Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia;…
8q12 microduplication syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 228399 Definition The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multiorgan clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)….
Pseudoprogeria syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2985 Definition Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. Visit…
Subcorneal pustular dermatosis
Subcorneal pustular dermatosis (SPD) is a rare skin disease in which pus-filled pimples or blisters (pustules) form under the top (subcorneal) layer of the skin.[1][2][3][4][5] It is most common in middle-aged adults (particularly women) but can develop in children.[2][5] Pustules usually appear over a few hours and grow together to form round or wavy patterns.[2][3]…
Hidradenocarcinoma
Hidradenocarcinoma is a rare tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but can be been found on other parts of the body. This type of tumor most often…
Renal dysplasia-limb defects syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3404 Definition Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants…
Omphalocele cleft palate syndrome lethal
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2736 Definition Lethal omphalocelecleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had…
Odontoonychodermal dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2721 Definition Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair. Epidemiology Less than…
Say Meyer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3369 Definition Trigonocephalyshort staturedevelopmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other…
Collagenous gastritis
Collagenous gastritis (CG) is a rare condition that primarily affects the digestive system. People with CG have increased buildup of collagen in the subepithelial layer of the stomach.[1][2] This condition typically affects children and young adults up to 22 years, or older adults over 35 years of age. Signs and symptoms appear to vary depending…
Severe combined immunodeficiency
Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent…
Mevalonic aciduria
Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy.[1] During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. Additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small,…
Spondyloepiphyseal dysplasia tarda X-linked
X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches.[1][2] Other skeletal…
5-oxoprolinase deficiency
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 33572 Definition A very heterogeneous condition characterized by 5-oxoprolinuria. Epidemiology It has been detected in eight patients worldwide. All affected patients have been identified because of 5-oxoprolinuria. Clinical description Symptoms reported in individual patients include…
Hereditary sensory and autonomic neuropathy type V
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of…
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, spondyloepiphyseal dysplasia congenita (which is present from…
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…
Mounier-Kuhn syndrome
Mounier-Kuhn syndrome is a lung disorder that causes the respiratory tract to dilate or enlarge. People with this condition develop frequent respiratory tract infections and recurrent cough. The condition can be diagnosed by lung function tests, bronchoscopy, and a chest CT scan.[1] The cause of Mounier-Kuhn syndrome is unknown, although cigarette smoke and air pollutants may act as irritating factors. Some cases are…
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…
Conversion disorder
Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict.[1] Conversion disorder is thought to be caused by the body’s…
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…
Craniofacial dyssynostosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1516 Definition Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with…
Hailey-Hailey disease
Hailey-Hailey disease is a genetic skin disease that causes blistering. Signs and symptoms include a painful rash and blistering in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating, and friction.[1] Hailey-Hailey…
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…
Fraser syndrome
Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract. Signs and symptoms occur early in development and may also include abnormalities of the respiratory tract, specifically involving the larynx (voice box) and trachea (windpipe);…
Hawkinsinuria
Hawkinsinuria is an inherited disorder, characterized by the inability to break down the amino acid tyrosine. This results in the finding of certain amino acids in the urine, such as hawkinsin. The features of this condition usually appear around the time infants are weaned off breast milk and begin to use formula. The signs and…
Phyllodes tumor of the breast
Phyllodes tumors of the breast are rare tumors that start in the connective (stromal) tissue of the breast.[1][2] They get their name from the leaf-like pattern in which they grow (phyllodes means leaf-like in Greek).[2][3] They are most common in women in their 30s and 40s, although women of any age can be affected. These…
Human HOXA1 Syndromes
Human HOXA1 syndromes are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. The main symptoms include inability to move the eyes to the sides (horizontal gaze paralysis), deafness, and birth defects involving blood flow in and out of the heart. Human HOXA1 syndromes have been described…
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder.[1] The condition is characterized by intellectual deficit and numerous other abnormalities including excess folds of skin, multiple bony growths (exostoses), characteristic facial features, and cone-shaped phalangeal epiphyses (the growing ends of the bones in the fingers).[2] The range and severity of symptoms varies…
Andermann syndrome
Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs;…
Achromatopsia 2
Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include…
Acquired pure red cell aplasia
Acquired pure red cell aplasia (PRCA) is a bone marrow disorder characterized by a reduction of red blood cells (erythrocytes) produced by the bone marrow. Signs and symptoms may include fatigue, lethargy, and/or abnormal paleness of the skin (pallor) due to the anemia the caused by the disorder.[1] In most cases, the cause of acquired PRCA is unknown…
Disseminated peritoneal leiomyomatosis
Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. Although it can be seen in post-menopausal women and very rarely…
Acromelanosis
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Hereditary sensory and autonomic neuropathy type 1E
Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia)….
16p13.11 microduplication syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 261243 Definition 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Epidemiology It has been clinically and molecularly characterized in…
DYT-THAP1
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98806 Definition Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases. Epidemiology It has been reported in two Amish-Mennonite families. Clinical description Adolescent…
Medeira-Dennis-Donnai syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2476 Definition A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. Visit the…
Adult-onset vitelliform macular dystrophy
Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells.[1] AVMD usually begins after age…
Eagle syndrome
Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. “Classic Eagle syndrome” is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty…
Epidermolysis bullosa simplex, Ogna type
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79401 Definition Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering. Epidemiology Prevalence is unknown and EBS-O has been…
Severe congenital neutropenia autosomal recessive 3
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99749 Definition Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia,…
Edinburgh malformation syndrome
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Deficiency of N-glycanase 1
Deficiency of N-glycanase 1 (NGLY1 deficiency) is a complex neurological syndrome in which there is a deficiency of an enzyme known as N-glycanase 1 (NGLY1). This enzyme normally helps the body remove proteins that are not functioning properly. The typical features of NGLY1 deficiency include abnormal tear production, a movement disorder (choreoathetosis), and liver disease. Additional features may…
Fibrocartilaginous embolism
Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord.[1] FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms…
Goldmann-Favre syndrome
Goldmann-Favre syndrome, also known as the severe form of enhanced S-cone syndrome, is a inherited eye disease that affects the light-sensitive part of the eye (retina). Within the retina are “red,” “blue,” and “green” cones which allow us to see colors properly; and rods which allows us to see in dim light. People with Goldmann-Favre syndrome are born with an…
Epidermal nevus
An epidermal nevus is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells. The nevi (plural form of nevus) are seen at birth or develop in early childhood. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wart-like (verrucous) appearance….
Idiopathic pulmonary hemosiderosis
Idiopathic pulmonary hemosiderosis is a rare disease characterized by repeated episodes of bleeding into the lungs, which can cause anemia and lung disease. The body is able to remove most of the blood from the lungs, but a large amount of iron is left behind. Over time, this iron can cause permanent damage to the lungs (fibrosis)….
Keratoderma palmoplantaris transgrediens
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 495 Definition A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the…
Amyloidosis familial visceral
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85450 Definition A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several…
Congenital analbuminemia
Congenital analbuminemia (CAA) is a rare disorder characterized by the absence or very low levels of human serum albumin (HSA). Although albumin is the most abundant plasma protein and has many functions, patients with CAA present with only a few mild clinical signs, such as fatigue, low blood pressure, and swelling (edema). However, CAA patients…
Tetralogy of Fallot
Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta the artery that carries oxygen-rich blood to the body is shifted over the…
Ankyloblepharon filiforme imperforate anus
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1074 Definition An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present…
Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder (ANSD) is a rare condition that can affect a person’s ability to hear. Although sounds enter the inner ear normally, signals from the inner ear to the brain are not transmitted properly. As a result, the condition may be associated with mild to severe hearing loss and poor speech-perception abilities (difficulty understanding…
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