TaoMedAI/RareMedData huggingface dataset:
Folliculotropic mycosis fungoides (ORPHA:178512)
A rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.
Epidemiology
The annual incidence of MF and its variants is estimated at between 1/350,000 and 1/110,000, with folliculotropic MF accounting for about 5% of MF cases. Males are more frequently affected than females.
Clinical description
Folliculotropic MF predominantly affects adults. Skin lesions usually consist of grouped follicular papules, plaques or tumors, preferentially located in the head and neck area. Infiltrated plaques under the eyebrows and alopecia are common. Pruritus is often severe. Most cases present with mucinous degeneration of the hair follicles: these cases are referred to as MF-associated follicular mucinosis. Secondary bacterial infections are frequent. Progression of the disease and involvement of the lymph nodes and/or internal organs may occur as in the classical variant of the disease (see this term).
Etiology
The etiology remains unknown.
Diagnostic methods
The diagnosis is based on clinical presentation and should be confirmed by a skin biopsy. Histological findings reveal variable infiltration of the follicular epithelium by small, medium-sized, or sometimes large hyperchromatic cells with cerebriform nuclei and sparing of the epidermis. Most cases show mucinous degeneration of the follicular epithelium. In most cases, immunohistology reveals a memory T-helper phenotype (CD3+, CD4+ and CD8-).
Differential diagnosis
The main differential diagnoses include inflammatory dermatoses with prominent involvement of the hair follicle, such as lichen planopilaris (see this term). The relationship between "idiopathic" follicular mucinosis and MF remains unclear.
Management and treatment
Management is symptomatic and includes the use of PUVA (photochemotherapy) combined with interferon alpha-2a and retinoids, total body electron beam irradiation, and local radiotherapy in cases of persistent tumors.
Prognosis
The overall 5-year survival rate is 70-80%.

                            Last update: 
                            June 2009


                            - Expert reviewer(s): 
                            Pr Lorenzo CERRONI
Formiminoglutamic aciduria (ORPHA:51208)
A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.
Fountain syndrome (ORPHA:3219)
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.
Epidemiology
The syndrome is exceedingly rare and has been reported in only a few patients to date. Male and female patients have been described.
Clinical description
The main clinical features of Fountain syndrome include moderate to severe intellectual deficit, congenital sensorineural hearing impairment, and broad, stubby hands and feet. A coarse face with full lips and cheeks is also found. These signs are reported to become more prominent with age. Additional reported signs are early-onset, generalized seizures, short stature, large head circumference, and remarkable behavior (friendly demeanor).
Etiology
The etiology of Fountain syndrome has not been elucidated.
Genetic counseling
The pattern of inheritance appears to be autosomal recessive.

                            Last update: 
                            January 2014


                            - Expert reviewer(s): 
                            Pr Griet VAN BUGGENHOUT
Fourth branchial cleft anomaly (ORPHA:141037)
A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal absces, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula.
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome (ORPHA:397618)
A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.
Foveal hypoplasia-presenile cataract syndrome (ORPHA:2253)
A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.
Fowler urethral sphincter dysfunction syndrome (ORPHA:2795)
A rare urogenital disease characterized by otherwise unexplained chronic urinary retention of more than 1 liter of sterile urine on catheterization, an asensitive bladder with loss of urge to void, and no help of straining. Poor tolerance of self-catheterization is typically reported. The condition occurs in women between menarche and menopause.
Fowler vasculopathy (ORPHA:221126)
A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported.
FOXG1 syndrome due to 14q12 microdeletion (ORPHA:261144)
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
Epidemiology
It has been clinically and molecularly characterized in 3 patients so far.
Clinical description
The neurological picture evokes the congenital variant of atypical Rett syndrome (see this term). The phenotype includes other features: postnatal growth retardation and microcephaly, hypotonia, epilepsy, stereotypic movements and feeding problems. Dysmorphic features associate prominent metopic suture, bilateral epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears.
Etiology
This syndrome is caused by an interstitial deletion encompassing 14q12. These de novo deletions were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size and include FOXG1 as the gene responsible for the intellectual deficit and severe microcephaly.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Nicole MORICHON-DELVALLEZ
FOXG1 syndrome (ORPHA:561854)
A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.
FOXP1 Syndrome (ORPHA:391372)
A rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.
Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
Epidemiology
Prevalence and incidence are unknown. The disease primarily affects males and there is a lifetime cumulated risk for men in the general population of about 1/8,000.
Clinical description
The age of onset of tremor and/or ataxia in males is about 60 years. The clinical presentation is heterogeneous with variable dominant manifestations including: intention tremor, progressive cerebellar gait ataxia, frontal executive dysfunction, cognitive decline, peripheral neuropathy, and dysautonomia. Other signs include mild parkinsonism and psychiatric manifestations (depression, anxiety, agitation) with possible progression to dementia. Carrier females generally have less severe manifestations than males but also have an increased risk of primary ovarian insufficiency, chronic muscle pain, and hypothyroidism.
Etiology
FXTAS is caused by a CGG trinucleotide repeat expansion (55-200 repeats) in the permutation range of the FMR1 gene (Xq27.3). Approximately 1/260 females and 1/800 males in the general population are permutation carriers and penetrance is age dependent. The disease affects more than 33% of male and 10% of female carriers of the expansion. The severity of the clinical and neuropathological manifestations is correlated with the extent of the CGG expansion
Diagnostic methods
Diagnosis may be difficult because of the combination of signs that are common in elderly patients. Magnetic resonance imaging (MRI) shows global loss of brain volume, in particular cerebellar and cortical atrophy and hyperintensity white matter lesions around the periventricular area and in the middle cerebellar peduncles. Molecular genetic testing is needed to confirm diagnosis.
Differential diagnosis
Differential diagnoses include dementia, rare parkinsonian disorders and spinocerebellar ataxias (see these terms).
Antenatal diagnosis
As this is an adult-onset disorder, no antenatal diagnosis is possible.
Genetic counseling
Transmission follows an X-linked dominant pattern with variable penetrance. Genetic counseling should be provided to patients and their families.
Management and treatment
There is no specific treatment for FXTAS that targets the underlying pathological mechanism. Symptomatic treatment for the psychiatric and neurological manifestations should therefore be provided, along with specific monitoring for progression and degeneration.
Prognosis
The prognosis depends on the speed of progression of the disease, which is highly variable.

                            Last update: 
                            February 2013


                            - Expert reviewer(s): 
                            Dr Ginevra ZANNI
Frank-Ter Haar syndrome (ORPHA:137834)
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
FRAXE intellectual disability (ORPHA:100973)
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.
FRAXF syndrome (ORPHA:100974)
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
Epidemiology
Prevalence is unknown.
Etiology
The FRAXF fragile site is located at Xq28 within the 5'UTR of the TMEM185A gene.

                            Last update: 
                            August 2008
Fried syndrome (ORPHA:85335)
Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.
Epidemiology
Prevalence is unknown, but the syndrome was originally described in a large Scottish family.
Etiology
Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families.
Diagnostic methods
The presence of basal ganglia calcifications, detectable by CT scan, and elevated CSF protein levels are characteristic features of Fried syndrome and should prompt genetic analysis when found in individuals with XLMR.
Management and treatment
Beyond the management of hydrocephalus and follow-up of psychomotor development, no specific treatment is available.

                            Last update: 
                            October 2008


                            - Expert reviewer(s): 
                            Dr Ginevra ZANNI
Fried's tooth and nail syndrome (ORPHA:99672)
A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement.
Frontal fibrosing alopecia (ORPHA:254492)
Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.
Epidemiology
Prevalence is unknown. It most commonly affects postmenopausal women, although it has also been reported in men and premenopausal women.
Clinical description
Progressive recession of the frontal and temporal hairline is observed. Approximately half of all cases of FFA also have eyebrow loss; less often there is hair loss in other parts of the body. It is only very rarely associated with classic lichen planus lesions elsewhere. Histopathologically, perifollicular lymphocytic infiltrate and follicular hyperkeratosis are observed at the edge of the affected area, while the rest of the lesion appears pale with loss of the follicular ostia. It is histologically indistinguishable from other forms of lichen planopilaris.
Etiology
It was suggested that the disease could have a hormonal origin, but to date the precise etiology remains unknown.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Stephanie ARNOLD  - Dr Susan COOPER
Frontofacionasal dysplasia (ORPHA:1791)
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.
Frontometaphyseal dysplasia (ORPHA:1826)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.
Epidemiology
To date, over 100 cases have been described in the literature.
Clinical description
Frontometaphyseal dysplasia (FMD) is a congenital disorder and the cardinal manifestations in males are skeletal dysplasia (skull base sclerosis; distal phalangeal hypoplasia; progressive contractures of the hand over the first two decades resulting in marked limitation of movement at the interphalangeal, metacarpophalangeal joints, wrists, elbows, knees, and ankles); mild but progressive scoliosis; limb bowing; campomelia), facial dysmorphism (supraorbital hyperostosis, downslanting palpebral fissures, ocular hypertelorism, broad nasal bridge and nasal tip, hypodontia, oligodontia and occasionally craniosynostosis) and conductive and sensorineural hearing loss. Extraskeletal manifestations include congenital heart malformation (interauricular communication, ventricular septal defect, congenital pulmonary valve stenosis, aortic dilatation), congenital subglottic stenosis, an asthenic build, and underdevelopment of the musculature, most notably around the shoulder girdle and in the intrinsic muscles of the hands (common). Males with FMD can present with ureteric and/or urethral obstruction most frequently at the vesicoureteric junction (leading to hydronephrosis). Intelligence is normal. Females are less severely affected and present the characteristic craniofacial features, scoliosis but absent or attenuated digital, cardiorespiratory, and urologic anomalies.
Etiology
The exact pathogenesis of FMD is still unknown, however around half of cases of FMD are caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. There is evidence for a second autosomal locus for FMD that to date remains uncharacterized. FMD is allelic with 4 other skeletal dysplasias (otopalatodigital syndrome type 1 and 2 (OPD1 and OPD2, respectively), terminal osseous dysplasia - pigmentary defects (TOD) and Melnick-Needles syndrome (MNS)).
Genetic counseling
Many pedigrees are consistent with X-linked dominant inheritance. Male-to-male transmission has not been reported. The risk of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.

                            Last update: 
                            May 2015


                            - Expert reviewer(s): 
                            Pr Stephen ROBERTSON
Frontonasal arteriovenous malformation (ORPHA:141168)
Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure.
Frontonasal dysplasia-alopecia-genital anomalies syndrome (ORPHA:228390)
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome (ORPHA:521308)
A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome (ORPHA:306542)
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.
Frontonasal dysplasia (ORPHA:250)
A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.
Frontorhiny (ORPHA:391474)
A rare frontonasal dysplasia characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.
Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.
Frontotemporal dementia (ORPHA:282)
Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy (see these terms).