TaoMedAI/RareMedData huggingface dataset:
Open spinal dysraphism with a myelomeningocele (ORPHA:93969)
A rare form of spina bifida cystica (saccular, open neural tube defect (NTD)) characterized by a non-neurulated spinal cord (neural placode) on the surface of the cystic extension of dysplastic meninges (non-epidermised posterior meningocele). The spinal cord extends through a spina bifida (posterior vertebral defect) with typically everted or parallel laminae. Nerve roots are connected to the borders of the neural placode and are visible inside the sac. Myelomeningocele is characteristically associated with a Chiari II malformation. It can be either isolated or associated with split cord malformation.
Open spinal dysraphism (ORPHA:268369)
A rare neural tube closure defect characterized by a skin defect with exposed neural tissue in the area of the spinal column, with or without a protruding sac at the location of the defect. Signs and symptoms are variable depending on the content (only meninges or also spinal cord tissue), location, and severity of the lesion, but may include motor, sensory, and/or sphincter dysfunction, hydrocephalus, and/or skeletal anomalies (e. g. scoliosis, hemivertebrae), among others.
Ophthalmomandibulomelic dysplasia (ORPHA:2741)
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.
Epidemiology
Three cases in one family have been described so far (two males, one female).
Clinical description
Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal.
Etiology
The causative gene has not yet been identified.
Genetic counseling
Autosomal dominant inheritance has been suggested.

                            Last update: 
                            November 2009
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome (ORPHA:2743)
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.
Opsismodysplasia (ORPHA:2746)
Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.
Epidemiology
Twenty five cases (16 males and 9 females) have been reported in the literature so far.
Clinical description
The disorder is evident at birth. The facial dysmorphism includes macrocephaly, prominent brow, large fontanels, depressed nasal bridge, a small nose, anteverted nares and a long philtrum, hypertelorism, and exophthalmos. Additional features include a short neck, narrow thorax, predominantly rhizomelic micromelia with very short long bones, short feet and hands, muscular hypotonia, severe platyspondyly, marked delay of bone maturation, and increased susceptibility to respiratory infections.
Etiology
Etiology remains unknown.
Genetic counseling
Autosomal recessive transmission has been suggested.

                            Last update: 
                            September 2009


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.
Optic atrophy-intellectual disability syndrome (ORPHA:401777)
Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.
Optic disc pit (ORPHA:519404)
A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be involved. Patients are often asymptomatic, or may present with visual field defects, in particular paracentral arcuate scotoma connected to an enlarged blind spot. A number of patients develop serous macular detachment, with loss of vision typically becoming apparent in the third or fourth decade of life.
Optic pathway glioma (ORPHA:2086)
Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term).
Oral submucous fibrosis (ORPHA:357154)
Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.
Oral-facial-digital syndrome with short stature and brachymesophalangy (ORPHA:508501)
A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.
Orbital leiomyoma (ORPHA:52994)
Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported.
Orgasm-induced seizures (ORPHA:166421)
Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine.
Orofaciodigital syndrome type 11 (ORPHA:141000)
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.
Orofaciodigital syndrome type 14 (ORPHA:434179)
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.
Orofaciodigital syndrome type 2 (ORPHA:2751)
Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.
Epidemiology
Less than 20 cases have been reported so far.
Clinical description
Main clinical features include bilateral preaxial polydactyly of hands and feet, partial duplication of hallux, brachydactyly, syndactyly, scoliosis, pectus excavatums, short stature, muscular hypotonia, conductive hearing loss. Facial dysmorphism may include midface hypoplasia, hypertelorism, antimongoloid slant, broad nasal root, bifid nasal tip, cleft palate, microglossia, lobulated tongue, thick frenulum and low set ears. Microcephaly, porencephaly and internal hydrocephalus are also observed. Intelligence is normal in the majority of cases. Intellectual deficit and increased susceptibility to respiratory infections have been described in some patients. Involvement of the central nervous system (cerebellar atrophy) seems to be a clinical feature of OFD2.
Etiology
The causative gene has not yet been identified.
Genetic counseling
Autosomal recessive inheritance has been suggested.

                            Last update: 
                            November 2009


                            - Expert reviewer(s): 
                            Pr Marie-Paule VAZQUEZ
Orofaciodigital syndrome type 4 (ORPHA:2753)
Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.
Epidemiology
Approximately 15 cases have been reported so far.
Clinical description
Additional features include hypoplastic mandible, micrognathia, cleft palate, prominent eyes, low-set ears and normal intelligence.
Etiology
The causative gene has not yet been identified.
Genetic counseling
Autosomal recessive inheritance has been suggested.

                            Last update: 
                            November 2009


                            - Expert reviewer(s): 
                            Pr Marie-Paule VAZQUEZ
Orofaciodigital syndrome type 5 (ORPHA:2919)
A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
Orofaciodigital syndrome type 6 (ORPHA:2754)
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 associated with orofacial anomalies and often polydactyly.
Epidemiology
Prevalence is unknown.
Clinical description
Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenulae, but cleft lip and/or palate can also be present. Polydactyly is typically mesaxial with Y-shaped metacarpals, but can also be preaxial or postaxial. A subset of patients present with hypothalamic hamartoma that has never been reported in other JSRD subgroups.
Etiology
Two OFD6 patients, including one fetus, were found to carry a homozygous mutation in the TMEM216 gene (11q13.1), but mutations in this gene were excluded in several other patients, and the genetic basis of this condition still remains elusive.
Genetic counseling
Males and females are equally affected and an autosomal recessive pattern of inheritance was observed in familial cases.

                            Last update: 
                            July 2011


                            - Expert reviewer(s): 
                            Dr Francesco BRANCATI  - Pr Bruno DALLAPICCOLA  - Pr Enza Maria VALENTE
Orofaciodigital syndrome type 8 (ORPHA:2755)
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.
Epidemiology
The syndrome has been described in one family with four affected males in three generations.
Clinical description
Increased susceptibility to respiratory infections has been noted.
Etiology
X-linked recessive transmission has been suggested, but the causative gene has not yet been identified.

                            Last update: 
                            November 2009
Orofaciodigital syndrome type 9 (ORPHA:141007)
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).
Epidemiology
Less than ten cases have been described in the literature.
Clinical description
Recurrent aspiration pneumonia and severe microcephaly have been reported occasionally.
Etiology
The causative gene has not yet been identified.
Genetic counseling
Autosomal and X-linked recessive inheritance were initially suggested. Taking into consideration all reported cases so far, autosomal recessive inheritance seems most likely.

                            Last update: 
                            November 2009
Oromandibular dystonia (ORPHA:93958)
A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.
Oromandibular-limb hypogenesis syndrome (ORPHA:2749)
Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).
Epidemiology
Prevalence is estimated at 1:500,000.
Clinical description
The clinical features are evident at birth. Intelligence is normal.
Etiology
Etiology remains unknown.

                            Last update: 
                            September 2009
Osgood-Schlatter disease (ORPHA:97335)
Osgood-Schlatter disease is a traction apophysitis of the anterior tibial tubercle described in active adolescents and characterized by gradual onset of pain and swelling of the anterior knee causing limping that usually disappears at the end of growth.
OSLAM syndrome (ORPHA:2760)
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
Ossification anomalies-psychomotor developmental delay syndrome (ORPHA:73230)
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia.
Osteoblastoma (ORPHA:58040)
A rare, neoplastic disease characterized by a typically benign, locally aggressive, non self-limiting, osteoblastic bone tumor, usually located on the spine, proximal humerus and hip (although any bone may be involved), generally manifesting with slowly progressive, dull aching pain which is difficult to localize and is not relieved by nonsteroidal anti-inflammatory drugs or aspirin. Neurologic symptoms, such as cranial nerve palsies, myelopathy, neuralgia, radiculopathy, paraparesis or paraplegia, may be associated if the spine is involved. Imaging reveals a lytic (or mixed lytic and blastic) lesion with a radiolucent nidus (> 2 cm) associated with reactive sclerotic bone.
Osteochondritis dissecans (ORPHA:2764)
Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.
Osteochondrosis of the metatarsal bone (ORPHA:564003)
A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life.
Osteochondrosis of the tarsal bone (ORPHA:563991)
A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.
Osteocraniostenosis (ORPHA:2763)
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
Epidemiology
First described in 1989, less than 30 cases have been reported so far.
Clinical description
'This multiple congenital anomalies syndrome is characterized by dysmorphic features of the fetus and the newborn: the skull is misshapen, combining acrocephaly and cloverleaf deformity, fontanelles are very large; facial dysmorphism includes midface hypoplasia with telecanthus, short upturned nose, short philtrum, small inverted V-shaped mouth and low-set ears; limbs are also affected with bowed forearms, micromelia and acromicria with brachydactyly.'
Etiology
Etiology of osteocraniostenosis is not well known, but some histological findings report growth plate disorganization and adjacent diaphyseal ossification. Recently, heterozygous mutations of the FAM111A gene, encoding a protein of unknown function and responsible of some autosomal dominant forms of Kenny-Caffey syndrome (see this term) with hypothyroidism and slender and dense bone, have been identified in patients with osteocraniostenosis. A clinical and genetic heterogeneity remains likely.
Diagnostic methods
Diagnosis is based mainly on radiological and pathological examination. Radiological examination reveals hypomineralisation of the skull, flat and dense vertebral bodies, thin tubular bones with flared and dense metaphyses, brachymetacarpia and brachyphalangy with ''diabolo appearance'' (very thin tubular bones with abrupt metaphyseal flare) and lack of ossification of the distal phalanges. The spleen is hypoplasic or even absent. Diaphyseal fractures are frequent at birth.
Differential diagnosis
Differential diagnosis includes the hypo/akinesia sequence, Hallermann-Streiff-FranÁois syndrome, Kenny-Caffey syndrome and other slender bone dysplasias, and some cases of osteogenesis imperfecta with slender bones (see these terms).
Antenatal diagnosis
Prenatal ultrasound observation reveals micromelic dwarfism, cranial deformity, mild intra-uterine growth retardation and sometimes fractures.
Genetic counseling
Cases with FAM111A gene mutations show an autosomal dominant mode of inheritance with a majority of de novo mutations.
Management and treatment
There is no treatment for osteocraniostenosis.
Prognosis
Prognosis is very poor as most cases are stillborn or die in their first days of life.

                            Last update: 
                            May 2014


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Osteofibrous dysplasia (ORPHA:488265)
Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.
Osteogenesis imperfecta type 1 (ORPHA:216796)
A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta, and mild long bone bowing bone deformities.