Rare Pediatrics News
Immunodeficiency with thymoma
Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray.[1][2][3] Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. carinii pneumonia, and mucocutaneous candidiasis.[2][3] While the cause of Good…
Troyer syndrome
Troyer syndrome is a neurological disorder and one of the many types of hereditary spastic paraplegia.[1][2] Signs and symptoms typically begin in early childhood and may include progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; developmental delays; speech difficulty; mood swings; and short stature.[2][3][1]…
Hepatic lipase deficiency
Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. Hepatic lipase…
Orofaciodigital syndrome 4
Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).[1] Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the…
Hereditary hemorrhagic telangiectasia type 4
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 774 Definition An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations. Epidemiology The prevalence is approximately 1/6,000 Clinical description The most common clinical signs of hereditary hemorrhagic telangiectasia (HHT) include recurrent…
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85182 Definition Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous…
Pseudotrisomy 13 syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2166 Definition Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term). Epidemiology Incidence is unknown. Clinical description Dysmorphic features…
Epilepsy, benign occipital
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 25968 Definition Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment…
Ochoa syndrome
Ochoa syndrome is a very rare condition that causes unusual facial expressions and problems with urination.[1] People with this condition have a characteristic frown-like facial expression when they try to smile or laugh, often described as “inversion” of facial expression. Urinary tract problems may include the inability to control urination (incontinence), inability to completely empty…
Bilateral perisylvian polymicrogyria
Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BPP is a subtype of a broader condition known as polymicrogyria. The cerebral cortex of the brain normally consists of several deep folds and grooves. In BPP, the grooves that develop during embryonic growth form…
Primary hyperparathyroidism
Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH).[1] Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired…
Hypolipoproteinemia
Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associated genetic disorders includes abetalipoproteinemia, familial hypobetalipoproteinemia, and chylomicron…
Burkitt lymphoma
Burkitt lymphoma (BL) is a very fast-growing type of cancer. It is a form of Bcell non-Hodgkin’s lymphoma.[1] There are 3 recognized forms of BL: Endemic (African) the most common form, found mainly in central Africa, where it is associated with the Epstein Barr virus (EBV).[2] It is most common in children. This form often manifests as enlargement of…
Ichthyosis tapered fingers midline groove up
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2272 Definition Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack…
Boomerang dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1263 Definition Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a…
Polycystic ovarian syndrome
Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman’s menstrual cycle, ability to have children, hormones, heart, blood vessels, and appearance. Women with this condition typically have high levels of hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. The cause of PCOS is unknown, but probably involves a…
Pfeiffer Mayer syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2921 Definition Preaxial polydactyly-colobomataintellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is…
Infantile spasms broad thumbs
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3173 Definition Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or…
Polycystic kidneys, severe infantile with tuberous sclerosis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88924 Definition Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)….
Pachygyria
Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system.[1] With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as “incomplete lissencephaly.”[2][3] Pachygyria may occur alone (isolated) or…
Plasmacytoma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86855 Definition Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of…
Systemic candidiasis
Systemic candidiasis includes a spectrum of yeast infections caused by different species (types) of Candida.[1] It is a serious infection that can affect the blood, heart, brain, eyes, bones, or other parts of the body.[2] Although there are over 200 species of Candida, five different species of Candida cause 90% of systemic candidiasis.[1][2][3] The most common form of…
Wells syndrome
Wells syndrome is a rare eosinophilic disorder that primarily affects the skin. Affected people typically develop a skin rash that is often preceded by itching or burning skin. The rash consists of raised, red, swollen areas that may be warm to the touch. The symptoms generally come on rapidly and may last four to eight weeks. In some…
Porokeratosis of Mibelli
Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened…
Spinocerebellar ataxia autosomal recessive 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83472 Definition A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from…
Camurati Engelmann disease, type 2
Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk,…
Pulmonary atresia with ventricular septal defect
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1207 Definition Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD)…
DPM2-CDG
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 329178 Definition Congenital muscular dystrophy with intellectual disability and severe epilepsy is a rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable…
ROHHAD
ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system. As the name suggests, the key features include dramatic weight gain over a sixto…
Renal nutcracker syndrome
Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. Signs and symptoms can vary from person to person. Some people may not have symptoms, while others develop severe and persistent symptoms. Symptoms may include blood in the urine…
Primary carnitine deficiency
Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia.[1] Some individuals…
Ruvalcaba syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3121 Definition Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature,…
Leukoencephalopathy palmoplantar keratoderma
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2386 Definition Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. Visit the Orphanet…
Cataract-glaucoma
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Limbic encephalitis with LGI1 antibodies
Limbic encephalitis with LGI1 antibodies is a relatively new disease characterized by progressive memory loss, confusion, sleep disturbances, and problems with behaviors and spatial orientation. Seizures are common and frequently precede other symptoms. About half of people with this diagnosis exhibit a specific type of seizure called faciobrachial dystonic seizures, which resemble brief jerks of…
Cerebral cavernous malformation
Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure which lead to altered blood flow. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (the brain and spinal cord). Cavernous…
Ulnar-mammary syndrome
Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development…
Central serous chorioretinopathy
Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs…
Sezary syndrome
Sezary syndrome is an aggressive form of cutaneous T-cell lymphoma which is a group of disorders that occur when T-cells (a type of white blood cell) become cancerous and affect the skin. It is characterized by a widespread red rash that may cover most of the body, the presence of cancerous T cells (called Sezary…
Cerebellar hypoplasia
Cerebellar hypoplasia is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. It may occur with a variety of congenital syndromes, metabolic disorders and neurodegenerative disorders; therefore signs and symptoms may depend upon the associated condition an affected individual has.[1] The most common findings are developmental and…
Mycobacterium Malmoense
Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste.[1][2] M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection.[3][4] Skin and tissue infections with M. malmoense have also been described.[1] In young children, M….
Spastic paraplegia 8
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100989 Definition A pure or complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may…
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 363649 Definition Mandibular hypoplasia-deafness-progeroid syndrome is a rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which…
Chediak-Higashi syndrome
Chediak-Higashi syndrome is a genetic syndrome that affects the immune system, as well as other parts of the body. Signs and symptoms include a weakened immune system, repeated and persistent infections beginning in infancy and childhood, oculocutaneous albinism, blood clotting problems, and nervous system abnormalities (e.g., weakness, difficulty walking, and seizures). Complications from this syndrome can…
Mastocytic enterocolitis
Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the mucosa (the innermost layer of the colon).[1] The increase in mast cells is not associated with systemic mastocytosis or cutaneous mastocytosis.[2] The infiltration of…
Median cleft of upper lip with polyps of facial skin and nasal mucosa
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1993 Definition A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with…
Schneckenbecken dysplasia
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3144 Definition Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. Epidemiology Less than 20 cases have been reported in the literature so far. Clinical description The typical radiographic finding is…
Toxocariasis
Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis when the larvae…
Urocanase deficiency
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Chromosome 17q deletion
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1597 Definition A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial…
Misophonia
Misophonia, translated to “hatred of sound,” is a chronic condition that causes intense emotional reactions to specific sounds. The most common triggers include those provoked by the mouth (chewing gum or food, popping lips), the nose (breathing, sniffing, and blowing) or the fingers (typing, clicking pen, drumming on the table). Reactions to the specific sound…
Chromosome 1p deletion
Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often…
X-linked intellectual disability short stature – obesity
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3055 Definition X-linked intellectual disabilityhypogonadism-ichthyosis-obesityshort stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further…
Chromosome 9q duplication
Chromosome 9q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 9. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people…
Myocarditis
Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused…
Nephronophthisis
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 655 Definition A chronic tubulointerstitial nephropathy that progresses to end-stage renal failure. Epidemiology Prevalence is 1/100 000 individuals. Clinical description The disease is both clinically and genetically heterogeneous. Three main clinical forms have been described….
Classical-like Ehlers-Danlos syndrome
Classical-like Ehlers-Danlos syndrome (EDS due to tenascin-X (TNX) deficiency) is a form of Ehlers Danlos Syndrome (EDS) characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising. Other signs and symptoms might include: muscle weakness and wasting (atrophy), and protrusion of part of the stomach…
Hereditary motor and sensory neuropathy type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 64751 Definition Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty…
Pontocerebellar hypoplasia type 5
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166068 Definition Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and…
Uveal coloboma-cleft lip and palate-intellectual disability
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Retinal cone dystrophy 3B
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Rare Pediatrics News