TaoMedAI/RareMedData huggingface dataset:
Cono-spondylar dysplasia (ORPHA:420794)
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.
Conotruncal heart malformations (ORPHA:2445)
A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
Constitutional mismatch repair deficiency syndrome (ORPHA:252202)
Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.
Contractures-developmental delay-Pierre Robin syndrome (ORPHA:436003)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.
Contractures-ectodermal dysplasia-cleft lip/palate syndrome (ORPHA:1484)
A rare ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome (ORPHA:314002)
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.
Cooks syndrome (ORPHA:1487)
Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.
Epidemiology
To date, less than 20 individuals have been described in the world literature.
Clinical description
Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis (see this term) in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. Finger pads at the dorsal aspects of the affected fingers may occasionally be seen. To date, no facial dysmorphism has been associated with Cooks syndrome. Cooks syndrome is considered a clinical form of brachydactyly type B (see this term), distinct from the typical variant with sparing or duplication of the thumbs and caused by mutations in the ROR2 gene (9q22).
Etiology
The exact etiology of Cooks syndrome is still unknown but microduplications on chromosome 17q24.3 and involvement of a non-coding element of the SOX9 gene (17q24.3) have recently been associated in some patients with Cooks syndrome. The SOX9 gene is necessary for chondrocyte differentiation and cartilage formation.
Genetic counseling
An autosomal dominant mode of inheritance has been proposed. Genetic counseling may be proposed and the recurrence risk is of 50%.

                            Last update: 
                            November 2014


                            - Expert reviewer(s): 
                            Dr Marco CASTORI
Cooper-Jabs syndrome (ORPHA:1488)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.
Cor triatriatum dexter (ORPHA:99098)
A rare, congenital, non-syndromic, heart malformation characterized by the persistence of the embryonic right valve of the sinus venosus which results in a subdivision of right atrium into two chambers. Clinical manifestations depend on the degree of right atrial septation and the size of sinoatrial orifice and vary from asymptomatic to symptoms of tricuspid valve stenosis, atrial fibrillation, cyanosis, syncope, elevated central venous pressure and right heart failure. The anomaly may be isolated or associated with other congenital heart anomalies.
Cor triatriatum sinister (ORPHA:99099)
A rare, congenital, non-syndromic, heart malformation characterized by the presence of a thin, fibromuscular membrane subdividing the left atrium into an upper and lower chamber. The upper chamber receives blood from the pulmonary veins and the lower chamber is attached to the left atrial appendage. Therefore, the membrane blocks the orifice of the mitral valve and leads to obstruction of the left ventricular inflow. It may be asymptomatic or present in infancy with tachypnea, dyspnea, hemoptysis, chest pain, syncope, pulmonary edema, pulmonary hypertension, or heart failure, depending on the degree of obstruction. The anomaly may be isolated or associated with other congenital heart anomalies.
Corneal dystrophy-perceptive deafness syndrome (ORPHA:1490)
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.
Epidemiology
To date, 24 cases from 11 families of various origins (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan and Dominican) have been reported.
Clinical description
The ocular manifestations in CDPD include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from the ocular findings characterizing autosomal recessive CHED (CHED2). Hearing deficit in CDPD is slowly progressive and is typically identified in patients between 10 and 25 years of age. There are no reported cases with prelingual deafness, however, significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected early in the disease course, even at birth.
Etiology
CDPD is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and CDPD are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 with CHED2 and six with CDPD).
Diagnostic methods
Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. Molecular confirmation of the clinical diagnosis is feasible.
Differential diagnosis
A variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids and congenital glaucoma; see these terms). Audiometry must be performed to differentiate CDPD from CHED2. Autosomal recessive types of CHED (CHED2) and CDPD should be carefully distinguished from the less severe autosomal dominant type, CHED1.
Genetic counseling
More than 50% of the reported CDPD cases have been associated with parental consanguinity and all reported cases have been consistent with autosomal recessive transmission.
Management and treatment
The ocular abnormalities in patients with CDPD may be treated with topical hyperosmolar solutions. However, corneal transplantation (penetrating keratoplasty) represents the definitive treatment. Corneal transplantation results in substantial visual gains and has a relatively good surgical prognosis. Audiometric monitoring should be offered to all patients. Hearing aids may be necessary in adolescence.

                            Last update: 
                            October 2008


                            - Expert reviewer(s): 
                            Pr Marc ABRAMOWICZ  - Dr Julie DESIR
Corneal endotheliitis (ORPHA:137602)
A rare corneal disorder characterized by inflammation of the corneal endothelium with corneal edema, keratic precipitates, mild to moderate anterior chamber reaction, and subsequent visual disturbances. It is often associated with increased intraocular pressure. Based on the distribution of the lesions, a linear, sectorial, disciform, and diffuse form can be distinguished.
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome (ORPHA:352662)
A rare opthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.
Corneodermatoosseous syndrome (ORPHA:3194)
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.
Coronary arterial fistula (ORPHA:2041)
Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.
Epidemiology
Their exact incidence is unknown but the defect is rare and usually occurs in isolation.
Clinical description
The majority of these fistulas are congenital in origin although they may occasionally be detected after cardiac surgery. They do not usually cause symptoms or complications in the first two decades of life, especially when small. After this age, the frequency of both symptoms and complications increases. Complications include 'steal' from the adjacent myocardium, thrombosis and embolism, cardiac failure, atrial fibrillation, rupture, endocarditis/endarteritis and arrhythmias. Thrombosis within the fistula is rare but may cause acute myocardial infarction, paroxysmal atrial fibrillation and ventricular arrhythmias. Spontaneous rupture of the aneurysmal fistula causing haemopericardium has also been reported.
Diagnostic methods
Whilst two-dimensional echocardiography helps to differentiate between the different shunts, coronary angiography is the main diagnostic tool for the delineation of the anatomy.
Differential diagnosis
The main differential diagnosis is patent arterial duct, although other congenital arteriovenous shunts need to be excluded.
Management and treatment
Surgery was the traditional method of treatment but nowadays catheter closure is recommended using a variety of closure devices, such as coils. With the catheter technique, the results are excellent with infrequent complications.

                            Last update: 
                            December 2006


                            - Expert reviewer(s): 
                            Dr Shakeel QURESHI
Coronary ostial stenosis or atresia (ORPHA:99087)
A rare coronary artery congenital malformation characterized by congenital, partial or total occlusion of the left or right coronary artery orifice, associated with hypoplasia of the proximal segment of the corresponding coronary artery. It may present with failure to thrive, dyspnea, syncope, angina pectoris, ventricular tachycardia, myocardial ischemia and/or sudden death.
Coronary sinus stenosis (ORPHA:99117)
A rare congenital anomaly of the coronary sinus characterized by its stenosis at the ostium, lumen, or origin, typically leading to dilation of the vessel. Symptoms are variable and can include palpitations, tachypnea, dyspnea, chest pain, fatigue, and cyanosis. The malformation may be associated with other cardiac anomalies, such as coronary artery-coronary sinus fistula, unroofed coronary sinus, atrial septal defect, coronary sinus-left atrium fistula, total anomalous pulmonary venous connection, and ventricular septal defect.
Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome (ORPHA:459074)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.
Corpus callosum agenesis-neuronopathy syndrome (ORPHA:1496)
A rare neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.
Cortical blindness-intellectual disability-polydactyly syndrome (ORPHA:1389)
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.
Corticosteroid-binding globulin deficiency (ORPHA:199247)
Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.
Coxoauricular syndrome (ORPHA:1508)
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.
Coxopodopatellar syndrome (ORPHA:1509)
Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
Epidemiology
Less that 50 patients have been reported worldwide.
Clinical description
The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies (a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus). Craniofacial anomalies (micrognathia, cleft palate, flattened nose and prominent forehead) have been reported occasionally. Intrafamilial variability of the patellar, pelvic and foot anomalies has been described. Signs and symptoms vary from pain resulting from gonarthrosis in elderly subjects to recurrent luxations from infancy, knee pain, and inability to run and ride a bicycle. However, some cases are asymptomatic.
Etiology
SPS is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features. At present, there is no evidence for a genotype-phenotype correlation.
Diagnostic methods
Diagnosis is clinical and radiographical.
Differential diagnosis
SPS should be recognized and differentiated from disorders with aplastic or hypoplastic patellae, such as isolated familial patella aplasia-hypoplasia (PTLAH) syndrome and the more severe nail-patella syndrome (NPS).
Genetic counseling
SPS is inherited in an autosomal dominant manner.
Management and treatment
Early surgical treatment, pain relief therapy and supportive measures should be offered.

                            Last update: 
                            November 2006


                            - Expert reviewer(s): 
                            Pr Didier LACOMBE
Cramp-fasciculation syndrome (ORPHA:581271)
A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed.
Crandall syndrome (ORPHA:202)
Crandall syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Björnstad's syndrome (see this term) that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder.
Crane-Heise syndrome (ORPHA:1512)
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.
Epidemiology
Nine cases have been reported in the literature so far.
Clinical description
Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant.
Etiology
It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait.
Antenatal diagnosis
Antenatal diagnosis is possible by ultrasonographic monitoring for cerebral and vertebral malformations.
Prognosis
Prognosis is poor; the syndrome is almost always lethal soon after birth.

                            Last update: 
                            January 2010
Cranial meningocele (ORPHA:268820)
A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid.
Cranio-cervical dystonia with laryngeal and upper-limb involvement (ORPHA:420485)
Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.