Rare Hematology News

Advertisement

Acardia

#N/A
#N/A

empty

Read More »

Pityriasis lichenoides chronica

#N/A
#N/A

Pityriasis lichenoides chronica (PLC) is a skin disease that causes the development of small, scaling, raised spots (papules) on the skin. PLC is the relatively mild form of the disease pityriasis lichenoides. A person with PLC tends to have multiple episodes of papules on the skin lasting for months or a few years, meaning the…

Read More »

Desmoplastic small round cell tumor

Unknown
C48.2

Desmoplastic small round cell tumor (DSRCT) is a rare type of soft tissue cancer (sarcoma) that usually begins in the abdomen. It primarily affects children and young adults and is more common in males. It is formed by small, round cancer cells surrounded by scar-like tissue and is often found in the tissue (peritoneum) that…

Read More »

Post Polio syndrome

Unknown
G14

Post polio syndrome (PPS) is a condition that affects polio survivors years after recovery from the initial polio illness.[1] Symptoms and severity vary among affected people and may include muscle weakness and a gradual decrease in the size of muscles (atrophy); muscle and joint pain; fatigue; difficulty with gait; respiratory problems; and/or swallowing problems.[1][2] Only a…

Read More »

Gestational diabetes insipidus

#N/A
#N/A

empty

Read More »

Pernicious anemia

#N/A
#N/A

Biermer’s disease, also called acquired pernicious anemia, is a condition in which the body is unable to properly utilize vitamin B12. Because vitamin B12 is essential for the formation of red blood cells, this condition is primarily characterized by anemia (too few red blood cells). Affected people may also experience gastrointestinal issues and neurological abnormalities…

Read More »

Primary liver cancer

N/A
C22.0

empty

Read More »

Acromicric dysplasia

<1 >
Q77.8

Acromicric dysplasia affects the growth and development of the bones. Signs and symptoms include short stature, short hands and feet, and distinctive facial features. Overtime, people with acromicric dysplasia may develop limited joint movement and hip dislocations. Acromicric dysplasia does not affect intelligence or learning. Acromicric dysplasia is caused by genetic variants in the FBN1 gene or the LTBP3…

Read More »

Prostatic malacoplakia associated with prostatic abscess

#N/A
#N/A

empty

Read More »

3-Hydroxyisobutyric aciduria

<1 >
E71.1

3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). Signs and symptoms of 3-hydroxyisobutyric aciduria include developmental delay,…

Read More »

Acute erythroid leukemia

N/A
C94.0

empty

Read More »

Pyoderma gangrenosum

Unknown
L88

Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn’s disease, polyarthritis (an inflammation of several joints together),…

Read More »

DK phocomelia syndrome

<1 >
Q87.8

DK phocomelia syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull (encephalocele), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, less than 15 cases…

Read More »

Aminoacylase 1 deficiency

<1 >
E72.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137754 Definition An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. Epidemiology Prevalence is unknown but less than 20 cases have been reported in the…

Read More »

Recurrent peripheral facial palsy

#N/A
#N/A

empty

Read More »

Meacham Winn Culler syndrome

<1 >
Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3097 Definition Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Epidemiology Less than 15 patients have been reported worldwide. Clinical description Ambiguous or female external genitalia…

Read More »

Syndactyly type 3

Unknown
Q70.1

Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused…

Read More »

Dupuytren subungual exostosis

#N/A
#N/A

empty

Read More »

Adolescent idiopathic scoliosis

#N/A
#N/A

Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated “s” or “C” shape, and the bones of the spine become slightly twisted or rotated. In many cases, the abnormal spinal curve is stable;…

Read More »

2-methylbutyryl-CoA dehydrogenase deficiency

<1 >
E71.1

2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of…

Read More »

Autosomal dominant neuronal ceroid lipofuscinosis 4B

N/A
E75.4

Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and…

Read More »

Spinocerebellar ataxia 37

<1 >
G11.8

empty

Read More »

Aggressive NK cell leukemia

Unknown
C94.7

empty

Read More »

Spondyloenchondrodysplasia with immune dysregulation

<1 >
Q77.7

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1855 Definition Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous…

Read More »

Malignant eccrine spiradenoma

#N/A
#N/A

Malignant eccrine spiradenoma is a type of tumor that develops from a sweat gland in the skin. It starts as a rapidly-growing bump on the head or abdomen, and may cause tenderness, redness, or an open wound.[1] The exact cause of malignant eccrine spiradenoma is unknown, though it is thought that sun exposure or problems with the…

Read More »

Xia-Gibbs syndrome

#N/A
#N/A

Xia-Gibbs syndrome is a rare disorder of intellectual disability.[1][2][3] People with this syndrome usually present with developmental delay (especially delays in speech), low muscule tone (hypotonia), failure to thrive, mildly unusual facial features (broad forehead, widely-spaced eyes (hypertelorism), big and low-set ears, flat nasal bridge, and thin upper lip), and breathing difficulties when sleeping (sleep…

Read More »

Microcephaly-albinism-digital anomalies syndrome

<1 >
Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2513 Definition Microcephaly albinism digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe….

Read More »

Spondylometaphyseal dysplasia with cone-rod dystrophy

<1 >
Q77.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85167 Definition Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual…

Read More »

Empty sella syndrome

#N/A
#N/A

Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland.[1] There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and…

Read More »

Subacute cerebellar degeneration

#N/A
#N/A

Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum).[1] Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration).[2]…

Read More »

Spondyloepimetaphyseal dysplasia with multiple dislocations

<1 >
Q77.7

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93360 Definition Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment…

Read More »

Fuchs endothelial corneal dystrophy

#N/A
#N/A

Fuchs endothelial corneal dystrophy (FECD) is an eye disease. It affects the thin layer of cells that line the back part of the cornea. This layer is called the endothelium. The disease occurs when these cells slowly start to die off. The cells help pump excess fluid out of the cornea. As more and more cells…

Read More »

Beta ketothiolase deficiency

Unknown
E71.1

Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body’s ability to process ketones, which are molecules produced during the breakdown of fats. Signs and symptoms typically appear between the ages of 6 and 24 months. Affected children experience…

Read More »

Stocco dos Santos syndrome

#N/A
#N/A

empty

Read More »

Epithelioid sarcoma

<1 >
C49.9

Epithelioid sarcoma (ES) is a rare cancerous tumor that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It can also occur elsewhere in the body. ES usually begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the…

Read More »

Tetraploidy

N/A
Q92.7

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3305 Definition Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is…

Read More »

Esophageal cancer

#N/A
#N/A

Esophageal cancer is a cancer of the esophagus, the hollow tube that carries foods and liquids from the throat to the stomach. Symptoms that may develop as the cancer grows include heartburn, pain when swallowing, difficulty swallowing, a hoarse voice, a cough that does not go away, weight loss, and coughing up blood.[1][2] The exact cause…

Read More »

Thumb deformity

#N/A
#N/A

empty

Read More »

Facial onset sensory and motor neuronopathy

<1 >
G60.0

Facial onset sensory and motor neuronopathy (FOSMN) is a rare and slowly progressive motor neuron disorder. Affected people initially experience facial tingling and numbness which eventually spread to the scalp, neck, upper trunk and upper limbs. These sensory abnormalities are later followed by the onset of motor symptoms such as cramps, muscle twitches, difficulty swallowing,…

Read More »

Andersen-Tawil syndrome

Unknown
G72.3

Andersen-Tawil syndrome is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It causes episodes of muscle weakness, changes in heart rhythm (arrhythmia), and developmental abnormalities. Physical abnormalities associated with this condition typically affect the head, face, and limbs. About 60% of cases of Andersen-Tawil syndrome are caused by…

Read More »

Tyrosinemia type 3

<1 >
E70.2

Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features…

Read More »

Familial Alzheimer disease

#N/A
#N/A

Familial Alzheimer disease (familial AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD)…

Read More »

Vasculitis

#N/A
#N/A

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52759 Definition Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giantcell arteritis and Takayasu arteritis; see these terms), medium-sized vessels (medium-vessel vasculitis…

Read More »

Verrucous nevus acanthokeratolytic

N/A
Q82.5

empty

Read More »

Tumor necrosis factor receptor-associated periodic syndrome

Unknown
E85.0

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between episodes may vary…

Read More »

Pulmonary venous return anomaly

N/A
Q26.2 Q26.3 Q26.4

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3090 Definition A rare developmental defect during embryogenesis where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading…

Read More »

Wallerian degeneration

#N/A
#N/A

empty

Read More »

Familial partial lipodystrophy type Köbberling

<1 >
E88.1

Familial partial lipodystrophy type Köbberling is a rare subtype of early-onset familial partial lipodystrophy (FPL), characterized by fat loss in the lower limbs and abnormal fat increase in other areas. The symptoms are similar to those seen in familial partial lipodystrophy, Dunnigan type (the most common type of FPL). However, only arms and legs have fat…

Read More »

Anterior segment dysgenesis

N/A
-

Anterior segment dysgenesis (ASD) refers to a spectrum of disorders that affect the development of the front of the eye (the anterior segment), which includes the cornea, iris, ciliary body, and lens. The specific eye abnormalities (alone or in combination) vary depending on the subtype of ASD and genetic cause, and some types may also be associated…

Read More »

Vestibulocochlear dysfunction, progressive

#N/A
#N/A

empty

Read More »

Loeys-Dietz syndrome

Unknown
Q87.4

Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual…

Read More »

Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly

<1 >
Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2180 Definition This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Epidemiology The syndrome…

Read More »

Trochlea of the humerus aplasia of

<1 >
Q74.0

empty

Read More »

Neonatal ovarian cyst

#N/A
#N/A

empty

Read More »

Autosomal recessive hyper IgE syndrome

#N/A
#N/A

Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported…

Read More »

Scalp ear nipple syndrome

<1 >
Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2036 Definition A rare syndrome characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia….

Read More »

Fowler’s syndrome

<1 >
-

Fowler’s syndrome mainly affects young women and leads to the inability to empty the bladder (urinary retention). Many women have no other symptoms, although some women experience stomach pain. Fowler’s syndrome is caused by spasms of the external urethral sphincter, a band of muscle that opens and closes at the exit of the bladder. The cause…

Read More »

Asbestosis

Unknown
J61

empty

Read More »

Frontonasal dysplasia Klippel Feil syndrome

#N/A
#N/A

empty

Read More »

Asrar Facharzt Haque syndrome

#N/A
#N/A

empty

Read More »

GAPO syndrome

<1 >
Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2067 Definition A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations. Epidemiology Approximately 38 patients have been reported in literature since the first description in 1947….

Read More »

Atypical Werner syndrome

N/A
E34.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79474 Definition An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged…

Read More »

GATA2 deficiency

#N/A
#N/A

GATA2 deficiency is a rare genetic disease that can present as several distinct syndromes: dendritic cell, monocyte, B, and natural killer lymphoid deficiency (monocytopenia and mycobacterial infection syndrome); familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML); deafness-lymphedema-leukemia syndrome (Emberger syndrome); or natural killer (NK) cell deficiency.[1] Symptoms are varied and include severe infections (most commonly viral or…

Read More »

Autosomal dominant candidiasis familial chronic mucocutaneous

#N/A
#N/A

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 391487 Definition An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis)…

Read More »

Genochondromatosis

#N/A
#N/A

empty

Read More »

Glucagonoma

<1 >
E16.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97280 Definition Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities,…

Read More »

Cerebelloparenchymal disorder 3

Unknown
G11.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1170 Definition The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often…

Read More »

Osteopetrosis autosomal recessive 7

<1 >
Q78.2

Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.[1][2] Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature,…

Read More »

Griscelli syndrome type 3

<1 >
E70.3

empty

Read More »

MYD88 deficiency

Unknown
D84.8

MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections. People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa). However, their immune response to other common bacteria, viruses, fungi, and parasites…

Read More »

Bain type of X-linked syndromic intellectual disability

#N/A
#N/A

Bain type of X-linked syndromic intellectual disability is a genetic syndrome characterized by developmental delay, intellectual disability, autism, hypotonia, and seizures. Other symptoms may include loss of acquired skills (developmental regression), behavioral problems, stiffness or tightness of the muscles (spasticity), problems coordinating movements, small head, unusual facial features, and short stature. Some individuals also develop…

Read More »

Microcornea, glaucoma, and absent frontal sinuses

<1 >
Q15.8

empty

Read More »

Knuckle pads, leuconychia and sensorineural deafness

<1 >
Q82.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2698 Definition A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness. Visit…

Read More »

Herpes simplex encephalitis

Unknown
B00.4+ G05.1*

Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness. Without early diagnosis and treatment, severe brain damage or…

Read More »

Waardenburg syndrome type 4

<1 >
Q87.8

Waardenburg syndrome type 4, also known as Waardenburg-Shah syndrome, is a genetic condition that can cause hearing loss; changes in coloring (pigmentation) of the hair, skin, and eyes; and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. Waardenburg syndrome type 4 is further divided into types 4A, 4B, and 4C based on their genetic…

Read More »

Bejel

#N/A
#N/A

empty

Read More »

Primary hypomagnesemia with secondary hypocalcemia

#N/A
#N/A

Familial hypomagnesemia with secondary hypocalcemia is a disease characterized by very low magnesium levels in the blood. The disease begins during the first months of life with generalized and recurrent seizures which do not improve with usual treatment. Additional features include tetany (spasms of the hands and feet, cramps, spasm of the voice box (larynx),…

Read More »

Horner’s syndrome

N/A
G90.2

Horner’s syndrome is a rare condition characterized by miosis (constriction of the pupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face).[1][2] It is caused by damage to the sympathetic nerves of the face. The underlying causes of Horner’s syndrome vary greatly and may include a tumor, stroke, injury, or underlying disease…

Read More »

Night blindness-skeletal anomalies-dysmorphism syndrome

#N/A
#N/A

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1390 Definition This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia). Epidemiology It has been described in two brothers. Clinical…

Read More »

Bidirectional tachycardia

#N/A
#N/A

empty

Read More »

Morgagni-Stewart-Morel syndrome

Unknown
M85.2

Morgagni-Stewart-Morel (MSM) syndrome is a disorder characterized by thickening of the frontal bone of the skull (hyperostosis frontalis interna), as well as obesity and excessive hair growth (hypertrichosis).[1] Other signs and symptoms may include seizures, headaches, diabetes insipidus, and sex gland disturbances.[2] The cause of Morgagni-Stewart-Morel syndrome is not fully understood. Some instances of dominant inheritance have…

Read More »

Ring dermoid of cornea

<1 >
D31.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91481 Definition Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations…

Read More »

Hypomandibular faciocranial dysostosis

<1 >
Q75.4

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1790 Definition Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis,…

Read More »

Hypothyroidism due to iodide transport defect

#N/A
#N/A

empty

Read More »

IRVAN syndrome

<1 >
H35.0

IRVAN syndrome is an acronym for “idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome,” a condition that primarily affects the eyes. Although this condition can occur in people of all ages, it is most commonly diagnosed in the third or fourth decade of life.[1][2] The severity of the condition varies from person to person with some affected people experiencing…

Read More »

Bowing of long bones congenital

Unknown
Q68.3 Q68.4 Q68.5 Q68.8

empty

Read More »

Immune thrombocytopenia

#N/A
#N/A

empty

Read More »

Brachymesophalangy type 2

#N/A
#N/A

empty

Read More »

Macrozoospermia

N/A
N46

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137893 Definition Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular…

Read More »

Familial breast cancer

#N/A
#N/A

Familial breast cancer is a cluster of breast cancer within a family. Most cases of breast cancer occur sporadically in people with little to no family history of the condition. Approximately 5-10% of breast cancer is considered “hereditary” and is thought to be caused by an inherited predisposition to breast cancer that is passed down…

Read More »

Intraneural perineurioma

N/A
-

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100003 Definition Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or…

Read More »

Orofaciodigital syndrome 6

<1 >
Q04.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2754 Definition Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS…

Read More »

C1q nephropathy

#N/A
#N/A

C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. In C1q nephropathy,…

Read More »

KBG syndrome

<1 >
Q87.8

KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss,…

Read More »

Rozin Hertz Goodman syndrome

<1 >
Q87.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1323 Definition Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched…

Read More »