TaoMedAI/RareMedData huggingface dataset:
Floating-Harbor syndrome (ORPHA:2044)
A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.
Epidemiology
Floating-Harbor syndrome prevalence and incidence are unknown. Around 100 cases have been reported in the literature to date.
Clinical description
Facial features include a triangular-shaped face, a prominent bulbous nose with a broad nasal bridge, a wide columella, deep-set eyes with long eyelashes, a wide mouth with a thin upper lip, low-set ears and sometimes broad thumbs and big toes. The speech defect is marked by impairment of expressive language and is often associated with a peculiar hypernasal voice. Stature is usually reported to be below the third percentile and between 2 and 4 SD below the mean. Bone age is always delayed. Other variable manifestations include celiac disease, pseudoarthrosis of the clavicle, intellectual disability, dental anomalies (malocclusion, microdontia, supernumerary upper teeth), a short neck, brachydactyly, and clinodactyly of the 5th finger. Associated genitourinary and cardiac anomalies have been reported in a few cases.
Etiology
The syndrome is associated with heterozygous mutations in exon 33 or mostly in exon 34 of the SRCAP gene (16p11.2), with two recurrent mutations (Arg2444* and Arg2435*). SRCAP encodes an ATPase which is involved in chromatin remodeling and is the cofactor of CREBBP, the gene responsible for Rubinstein-Taybi syndrome.
Diagnostic methods
Diagnosis is based on clinical examination and can be confirmed by genetic testing.
Differential diagnosis
The differential diagnosis should include other dysmorphic syndromes, in particular Rubinstein-Taybi syndrome.
Antenatal diagnosis
Prenatal diagnosis can be considered for families in which the disease-causing mutation has been identified.
Genetic counseling
The majority of reported cases are sporadic, but a few familial cases with autosomal dominant inheritance have been reported.
Management and treatment
Management is only symptomatic. Patients may benefit from developmental and educational programs and should receive regular orthodontic care. Growth hormone therapy may be of benefit in some patients.
Prognosis
Despite the presence of short stature and learning difficulties, in general patients appear to remain in good health and have a good quality of life.

                            Last update: 
                            May 2019


                            - Expert reviewer(s): 
                            Pr Didier LACOMBE
Florid cemento-osseous dysplasia (ORPHA:83451)
Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.
FLOTCH syndrome (ORPHA:2045)
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported.
Flynn-Aird syndrome (ORPHA:2047)
A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.
Focal acral hyperkeratosis (ORPHA:308013)
A rare epidermal disease characterized by multiple, usually asymptomatic, yellowish to flesh colored hyperkeratotic papules and plaques on the palms and soles, with a preference for the palmar and plantar margins. Histological examination shows pronounced orthohyperkeratosis overlying a crateriform depression in the epidermis, with hypergranulosis and mild acanthosis, while elastorrhexis is absent. The lesions appear in the second or third decade of life and gradually increase in number over several years. The condition may be sporadic or familial.
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation (ORPHA:352587)
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.
Focal facial dermal dysplasia type I (ORPHA:79133)
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.
Epidemiology
FFDD1 has been reported in over 80 cases including three large multi-generational families (German, English, Australian) and several sporadic cases.
Clinical description
The bitemporal, rarely unilateral, hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Other very rarely described and usually mild facial dysmorphic features may comprise a low frontal hairline, sparse hair, sparse lateral eyebrows, distichiasis (upper lashes), flattened nasal tip, bulbous nasal tip, prominent upper lip, skin dimples lateral to lips, horizontal chin furrow, vertical chin cleft, and linear grooves on the forehead. Most patients usually have normal intelligence.
Etiology
Etiology is unknown.
Diagnostic methods
Clinical examination reveals bitemporal scars.
Differential diagnosis
Differential diagnosis includes focal facial dermal dysplasia type 2 and 3 (see these terms).
Antenatal diagnosis
Prenatal diagnosis is not available
Genetic counseling
FFDD1 is transmitted in an autosomal dominant manner with full penetrance.
Management and treatment
No specific treatment exists. There is limited experience with plastic surgery for the facial scar-like lesions.
Prognosis
Affected individuals have a normal intelligence and life span.

                            Last update: 
                            June 2014


                            - Expert reviewer(s): 
                            Dr Robert DESNICK  - Dr Beomhee LEE
Focal facial dermal dysplasia type II (ORPHA:398173)
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.
Epidemiology
To date, FFDD2 has been reported in over 20 cases from 8 families.
Clinical description
FFDD2 is characterized by congenital bitemporal hypoplastic scar-like lesions resembling forceps marks with additional facial dysmorphic features. These frequently include low frontal hairline, sparse hair, periorbital puffiness, sparse lateral and upward lifting eyebrows, distichiasis (upper lashes), lack of lower lashes, flattened and/or bulbous nasal tip, and a prominent upper lip (with an inverted ''V'' contour). Occasionally epicanthal folds , linear grooves on forehead, skin dimples lateral to lips and redundant skin are reported. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioral problems, and learning difficulties may be observed.
Etiology
The etiology of FFDD2 is unknown.
Diagnostic methods
FFDD2 is diagnosed in patients bearing autosomal dominant bitemporal scar-like lesions and multiple FFDD2 features.
Differential diagnosis
Differential diagnosis includes focal facial dermal dysplasia type I (FFDD1) and focal facial dermal dysplasia type III (FFDD3; see these terms).
Genetic counseling
FFDD2 is transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance.
Management and treatment
Management comprises opthalmologic evaluations periodically. There is limited experience with plastic surgery for the facial scar-like lesions.
Prognosis
Affected individuals have a normal life span, but involvement of other organ systems may alter the prognosis.

                            Last update: 
                            June 2014


                            - Expert reviewer(s): 
                            Dr Robert DESNICK  - Dr Beomhee LEE
Focal facial dermal dysplasia type IV (ORPHA:398189)
Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.
Epidemiology
To date, FFDD4 is reported in over 20 patients.
Clinical description
FFDD4 is characterized by isolated congenital bilateral hypoplastic atrophic skin lesions distributed in a distinctive, curvilinear manner between the maxillary and manibular prominences in the preauricular region and/or cheek. Affected FFDD4 patients typically do not present with extra-cutaneous manifestations, although in a small number of cases, a hair collar sign (circumscription of the cutaneous lesion with terminal hairs), polyps on the buccal mucosa with a similar distribution pattern, and developmental delay have been reported.
Etiology
FFDD4 is caused in a subset of affected cases (four out of five unrelated families) by a 7 base pair duplication, c.844_851dupCCATGCA (p. p.Glu284fsX128) or a missense mutation, c.1433G>A (p.Arg478His) in the CYP26C1 gene, which is involved in retinoic acid metabolism and important in the formation of the mandibular and maxillary prominences. The short duplication occurs in 0.3% of the healthy control population, suggesting that heterozygosity for the alteration does not result in phenotypic manifestations.
Diagnostic methods
FFDD4 is diagnosed in patients with isolated preauricular scar-like lesions, typically in the absence of other manifestations. These patients were homozygous for the seven base pair duplication or were heteroallelic for the seven base pair duplication and the missense mutation in the CYP26C1 gene. Histologic findings include epidermal atrophy with the presence of loose connective tissue replacing the dermis, diminished fragmented elastic tissue, and a lack of subcutaneous tissues and adnexal structures.
Differential diagnosis
Differential diagnosis may include membranous aplasia cutis congenita (see this term), but in FFDD4 cutaneous lesions are isolated and do not occur in combination with other extra-cutaneous manifestations.
Genetic counseling
Appropriate counseling should be provided for this autosomal recessive trait. The fact that not all the patients with FFDD4 had CYP26C1 mutations indicates the occurrence of genetic heterogeneity for this developmental disorder.
Management and treatment
There is limited experience with plastic surgery for the facial scar-like lesions
Prognosis
Affected individuals have normal life span.

                            Last update: 
                            June 2014


                            - Expert reviewer(s): 
                            Dr Robert DESNICK  - Dr Beomhee LEE
Focal facial dermal dysplasia (ORPHA:398166)
Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.
Focal myositis (ORPHA:48918)
A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.
Epidemiology
Focal myositis prevalence is unknown. There have been approximately 200 cases described to date.
Clinical description
The disease can occur at any age. It presents as a mass (ranging in size from 1.0 to 20.0 cm) localized to a single skeletal muscle that may be painless or tender to the touch and that grows insidiously over several weeks to months. The mass is usually located in the lower extremities and the muscles most commonly affected include the adductor, vastus lateralis and gastrocnemius. It can rarely occur in muscles of the head and neck region. Additional rare systemic manifestations include fever, myalgia, generalized weakness and weight loss. It does not appear to invade the adjacent tendons, fascia or skin and usually regresses spontaneously with time. Recurrence is possible (seen in around 18% of cases) but uncommon. Rarely, classical inflammatory myopathies can present focally, thus mimicking focal myositis.
Etiology
The etiology is unknown. Possible causes include trauma (20%), genetic factors (that remain unknown), viral infections and autoimmune disease. Some regard focal myositis as a localized form of polymyositis. Chronic nerve irritation caused by compression of a nerve is another suspected cause of muscle fiber hypertrophy that consequently leads to focal myositis.
Diagnostic methods
Clinical and histological findings of an enlarged single muscle are indicative of focal myositis. Magnetic resonance imaging (MRI) is helpful to diagnose focal myositis as it reveals increased signal intensity and hypertrophy of the affected muscle. Electromyography shows spontaneous activity associated with a myopathic pattern. A minor elevation in the level of creatine kinase (CK) is sometimes seen.
Differential diagnosis
Clinically, focal myositis can be mistaken for many other conditions such as soft tissue sarcomas (rhabdomyosarcoma, liposarcoma, leiomyosarcoma), myositis ossificans progressiva, inflammatory myofibroblastic tumor, lymphoma, fibromatosis, rhabdomyoma, intramuscular lipoma, venous thrombosis and other conditions of inflammatory or vascular origin. Pathologically it can resemble an inflammatory myopathy and muscular dystrophy.
Management and treatment
Treatment is often not necessary as most cases resolve spontaneously. Anti-inflammatory drugs (steroid or nonsteroidal) such as oral prednisolone can be given to minimize any pain and inflammation. In cases complicated by limited joint motion, physical and/or surgical therapy may be necessary.
Prognosis
Prognosis is very good as most cases of focal myositis resolve spontaneously.

                            Last update: 
                            October 2019


                            - Expert reviewer(s): 
                            Dr Elisabeth RUSHING
Focal palmoplantar and gingival keratoderma (ORPHA:2200)
Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.
Focal palmoplantar keratoderma with joint keratoses (ORPHA:370002)
A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.
Focal stiff limb syndrome (ORPHA:443804)
A rare stiff person spectrum disorder characterized by painful episodic spasms (which are often precipitated by touch, pain, cold, movement, or negative emotions), increased stimulus sensitivity including hyperekplexia, as well as stiffness, in a lower or upper limb, typically with insidious onset and progression over months or years. The condition may eventually progress into classic stiff person syndrome. Fear of leaving the house and walking unaided is characteristic. Most patients have autoantibodies in serum and CSF, in particular anti-glutamic acid decarboxylase (GAD) antibodies. In rare cases, the syndrome is of paraneoplastic origin.
Focal, segmental or multifocal dystonia (ORPHA:1866)
A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.
Foix-Alajouanine syndrome (ORPHA:79093)
Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years.
Epidemiology
The prevalence is unknown. The syndrome most commonly affects men over the age of 50.
Clinical description
The initial symptoms are variable and include dysesthesia of the inferior members (symmetrical in most cases) associated with progressive ascending motor deficit. The ascending paraplegia eventually leads to urinary incontinence. Unilateral or painful manifestations at presentation are rare but have been reported.
Etiology
The causative lesion is a dural arteriovenous shunt of the medullary emissary vein. The arteriovenous shunt is acquired. It is fed by branches of the spinal meninges. The shunt is associated with reflux into the venous drainage of the cord, leading to congestion and chronic medullary ischemia.
Diagnostic methods
Radiological investigations and magnetic resonance imaging (MRI) of the spinal cord reveal dilated perimedullary veins associated with a hypersignal from the interior of the cord and, in chronic forms, variable degrees of spinal cord atrophy. Medullary angiography may be used to identify the arteriovenous shunt zone.
Management and treatment
Endovascular treatment is possible in around two thirds of cases. In the remaining cases, surgical disconnection of the emissary vein from the shunt zone leads to resolution of the fistula. In 80% of cases, improvement is immediate and symptoms regress progressively in a manner that is chronologically inverse to that of their appearance. In more evolved cases, no improvement is obtained. In some rare forms, secondary thrombosis may occur, aggravating the preoperative clinical manifestations. Early diagnosis of the disease allows more effective treatment. The most severe forms are most often associated with delayed diagnosis.

                            Last update: 
                            July 2006


                            - Expert reviewer(s): 
                            Pr Pierre LASJAUNIAS
Folinic acid-responsive seizures (ORPHA:79097)
Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.
Follicular cholangitis and pancreatitis (ORPHA:300552)
Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts.
Follicular dendritic cell sarcoma (ORPHA:86902)
A rare dendritic cell neoplasm characterized by a proliferation of spindled to ovoid cells with morphological and immunophenotypic features of follicular dendritic cells. Conventional follicular dendritic cell sarcomas are negative for EBV. The tumor arises as a painless, slow-growing mass in lymph nodes (most often cervical), extranodal sites (such as tonsils, gastrointestinal tract, soft tissue, mediastinum, or lung, among others), or both. Paraneoplastic pemphigus may occur in rare cases. Predictive factors are tumor size, presence of coagulative necrosis, mitotic count, and presence of significant cytological atypia.
Follicular lymphoma (ORPHA:545)
Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.
Epidemiology
Prevalence of follicular lymphoma is estimated at about 1/3,000.
Clinical description
The median age at diagnosis is 60-65 years. The disease is extremely rare in children. Follicular lymphoma is located primarily in the lymph nodes, but can also involve the spleen, bone marrow, peripheral blood and Waldeyer's ring. The skin and central nervous system are affected in rare cases. Symptoms appear at an advanced stage of the disease and can include fever, night sweats and weight loss. At diagnosis, patients usually present with adenopathy and, in 50% of cases, splenomegaly.
Etiology
In 85% of cases, follicular lymphomas are associated with a translocation t(14;18) (q32;q21), which activates the BCL2 gene encoding the BCL2 protein that is essential for some apoptosis processes.
Diagnostic methods
Diagnosis is based on histological analysis of the adenopathy, a complete blood count, measurement of lactate dehydrogenase (LDH) and biopsy analysis of a lymph node. Examination using imagery (particularly a chest radiograph) is required. The observation of the translocation t(14;18) by polymerase chain reaction (PCR), in addition to suggested histological results, confirms the diagnosis.
Differential diagnosis
Differential diagnoses include chronic lymphocytic B cell leukemia, diffuse large B cell lymphoma, mantle cell lymphoma and MALT lymphoma (see these terms).
Management and treatment
If the lymphoma is localized it should be treated by radiotherapy. In the case of advanced stage lymphoma, chemotherapy with immuno-chemotherapy should be offered (rituximab combined with CHOP). In cases of chemosensitive relapse, treatment can be intensified.
Prognosis
The survival rate at five years is 80-90% and medial survival is approximately 10-12 years.

                            Last update: 
                            March 2010


                            - Expert reviewer(s): 
                            Dr Vincent RIBRAG