TaoMedAI/RareMedData huggingface dataset:
Cranio-osteoarthropathy (ORPHA:1525)
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
Epidemiology
Prevalence is unknown. To date, about 30 cases have been reported.
Clinical description
COA presents in childhood with features of primary hypertrophic osteoarthropathy including digital clubbing and clinodactyly of the fingers, eczematous skin eruption, arthropathy and periosteal new bone formation as well as poor neurocranium ossification with delayed closure of the cranial sutures and fontanels, resulting in wide fontanels, and an increased number of wormian bones. COA may also be associated with congenital heart disease.
Etiology
It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait; however, heterozygous carriers can have a mild phenotype.

                            Last update: 
                            December 2010


                            - Expert reviewer(s): 
                            Pr Hermann GIRSCHICK
Craniodiaphyseal dysplasia (ORPHA:1513)
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Craniodigital-intellectual disability syndrome (ORPHA:1514)
Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.
Epidemiology
Less than 10 cases have been described in the literature so far.
Clinical description
Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported.
Genetic counseling
Transmission appears to be autosomal or X-linked recessive.

                            Last update: 
                            April 2008
Cranioectodermal dysplasia (ORPHA:1515)
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
Epidemiology
To date, 20 cases have been reported in the literature.
Clinical description
CED is primarily characterized by an abnormal development of bones (i.e. craniosynostosis/dolichocephaly, narrow thorax, pectus excavatum, rhizomelic micromelia, brachydactyly, syndactyly, clinodactyly, hyperextensible joints), and ectodermal defects such as dental anomalies (reduced enamel thickness, hypodontia, microdontia, taurodontism, malformations of the cusps), sparse hair, and abnormal finger and toe nails. Dysmorphic features are observed such as epicanthic folds, hypotelorism, anteverted nares, and everted lower lip. Patients frequently develop chronic renal failure due to nephronophthisis, usually between the ages of 2 and 6. Liver involvement (hepatic fibrosis) can also be observed. Recurrent lung infections, heart defects and ocular anomalies (nystagmus, myopia, retinal dystrophy, and particularly retinitis pigmentosa) are also possible in the course of the disease.
Etiology
CED is a heterogenous condition belonging to the ciliopathy group of diseases and is due to mutations in the IFT122, IFT43, WDR19 and WDR35 genes involved in intraflagellar transport (IFT). This genetic background explains the pleiotropic phenotype of CED that includes manifestations of several ciliopathies.
Diagnostic methods
Diagnosis is based on clinical examination. Imagery (ultrasonography), laboratory findings (urine analysis, serum electrolytes, and lipid profile), histological examination and liver and renal function tests allow detection of potential renal and liver anomalies. Ocular anomalies can be detected by eye fundus and electroretinography.
Differential diagnosis
Differential diagnosis of CED includes Jeune syndrome (see this term) from which it can be distinguished by the presence of craniosynostosis, and skin and dental dysplasia. CED also overlaps with Ellis van Creveld syndrome (see this term) which also shows ectodermal defects and narrow thorax.
Genetic counseling
In most cases, transmission is autosomal recessive.
Management and treatment
In many cases, renal function rapidly deteriorates, requiring treatment of metabolic acidosis, oral sodium chloride supplementation, then dialysis or renal transplantation in case of end-stage renal failure.
Prognosis
Prognosis depends on renal, heart and lung defects which can be life threatening.

                            Last update: 
                            June 2012


                            - Expert reviewer(s): 
                            Pr Valérie CORMIER-DAIRE
Craniofacial conodysplasia (ORPHA:85168)
Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.
Craniofacial dysostosis-diaphyseal hyperplasia syndrome (ORPHA:1798)
Stanescu type dysostosis is a rare form of osteosclerosis.
Epidemiology
So far it has been described in around 30 patients from three families.
Clinical description
It is characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. The long bones are short and bent, and thickening of bone cortex occurs during the pubertal and post-pubertal periods and increases with age.
Genetic counseling
The syndrome is inherited in an autosomal dominant manner.

                            Last update: 
                            March 2009


                            - Expert reviewer(s): 
                            Pr Raoul HENNEKAM
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome (ORPHA:459061)
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypolastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.
Craniofacial-deafness-hand syndrome (ORPHA:1529)
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (including flat facial profile normal calvarium, hypertelorism, small downslanting palpebral fissures with an antimongoloid slant, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural hearing loss/deafness and hand anomalies such as ulnar deviations and contractures of the hand.
Craniofaciofrontodigital syndrome (ORPHA:363705)
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).
Craniofrontonasal dysplasia-Poland anomaly syndrome (ORPHA:1521)
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.
Craniolenticulosutural dysplasia (ORPHA:50814)
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
Epidemiology
It was originally described in 21 members of a Saudi Arabian family, but six new cases from a consanguineous family and one unrelated individual have recently been reported.
Clinical description
Patients have abnormal hair, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad and prominent nose. In addition, CLSD patients have Y-shaped sutural cataracts diagnosed by 1-2 years of age. All affected individuals have proportionate short stature but intellectual development is normal. They have flat feet, joint hypermobility and abnormal dentition. Skeletal defects include scoliosis, high and narrow iliac wings and vertebral body defects. The anterior fontanel does not completely ossify in adulthood.
Etiology
CLSD maps to chromosome 14q13-q21 and causative mutations have been identified in the SEC23A gene.
Diagnostic methods
CLSD should be considered in evaluation of patients with late-closing fontanels.
Genetic counseling
Transmission is consistent with an autosomal recessive pattern of inheritance but other modes of inheritance can not be excluded.
Management and treatment
Treatment of the disorder is symptomatic.
Prognosis
The prognosis is good.

                            Last update: 
                            June 2008
Craniometadiaphyseal dysplasia, wormian bone type (ORPHA:85184)
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.
Craniometaphyseal dysplasia (ORPHA:1522)
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.
Craniomicromelic syndrome (ORPHA:1524)
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.
Craniopharyngioma (ORPHA:54595)
A rare neoplastic/endocrine disease characterized by benign slow growing tumors of low-grade histological malignancy (WHO grade 1) that are located within the sellar and parasellar regions of the skull base.
Epidemiology
The point prevalence of this tumor is approximately 1/50,000.
Clinical description
Clinical manifestations frequently occur long time before diagnosis with most patients at diagnosis having neurological (headaches, visual disturbances) and endocrine (growth delay, disturbances of pubertal development, central diabetes insipidus) dysfunction.
Etiology
Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumors) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamous papillary type tumors).
Diagnostic methods
The neuroradiological diagnosis is mainly based on the three components of the tumor (cystic, solid and calcified) in the characteristic sellar/parasellar location. Definitive diagnosis is based on histological examination of a surgical specimen.
Differential diagnosis
The differential diagnosis includes other tumors occurring in this region (pituitary adenomas, germinoma, low-grade glioma), infectious or inflammatory processes (Langerhans cell histiocytosis), vascular malformations (aneurysms) and congenital anomalies (Rathke's cleft cysts).
Antenatal diagnosis
Due to increased sensitivity of antenatal diagnostics (ultrasound), the rate of prenatal craniopharyngioma diagnosis is rising.
Management and treatment
If there is no hypothalamic involvement, the currently favored treatment strategy is tumor resection preserving the integrity of hypothalamus and visual structures. In the presence of hypothalamic invasion, the current hypothalamus-sparing strategy involves sub-total resection with post-operative radiotherapy. Endocrine disturbances are normally permanent and need careful replacement.
Prognosis
The 5 year overall-survival rate is 80%. However, high survival rates are associated with marked morbidity (hypothalamic syndrome, including morbid severe obesity; altered neuropsychological profile) in case of tumor- and/or treatment-associated hypothalamic damage.

                            Last update: 
                            December 2023


                            - Expert reviewer(s): 
                            Pr Hermann MÜLLER | PaedCan-ERN*


                                * European Reference Network
Craniorachischisis (ORPHA:63260)
Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.
Epidemiology
The prevalence is not known.
Clinical description
Craniorachischisis totalis, the most complete form of craniorachischisis, presents anencephaly and total spina bifida together and is lethal.
Etiology
As with other neural tube defects, craniorachischisis is thought to be of multifactorial origin.
Antenatal diagnosis
Antenatal diagnosis is possible by ultrasonographic monitoring.

                            Last update: 
                            January 2010
Craniorhiny (ORPHA:157832)
A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.
Craniosynostosis, Boston type (ORPHA:1541)
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.
Craniosynostosis, Herrmann-Opitz type (ORPHA:2145)
Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.
Craniosynostosis, Philadelphia type (ORPHA:1527)
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.
Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).
Epidemiology
It has been described in seven patients from four unrelated families.
Clinical description
Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanels and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis (a disorder of keratinization). Sensorineural hearing loss and mild to severe developmental delay are common.
Genetic counseling
The condition is transmitted as an autosomal recessive trait.

                            Last update: 
                            October 2010
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (ORPHA:1538)
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.
Craniosynostosis-dental anomalies (ORPHA:284149)
A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome (ORPHA:171839)
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.
Craniosynostosis-intracranial calcifications syndrome (ORPHA:52054)
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.
Craniosynostosis-microretrognathia-severe intellectual disability syndrome (ORPHA:565858)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly.
Craniosynostosis (ORPHA:1531)
Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.
Craniotelencephalic dysplasia (ORPHA:1528)
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.
Creatine deficiency syndrome (ORPHA:79172)
Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.
Creeping myiasis (ORPHA:504)
A rare cutaneous myiasis characterized by infestation of humans by the larvae of horse or cattle bot flies. After penetration of the skin, horse bot fly larvae form tunnels in the lower layers of the epidermis, where they can migrate for up to several months, causing serpentine, erythematous lesions with intense pruritus. Cattle bot fly larvae penetrate deeper into the subcutaneous tissue, producing more painful, erythematous lesions, which usually resolve after several hours or days, when the larvae move on to infest another area.
Crisponi syndrome (ORPHA:1545)
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
Epidemiology
Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families.
Clinical description
Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. Frequent contractions of the oropharyngeal muscles associated with absence of the swallowing reflex lead to major feeding and respiratory difficulties. All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum, and bilateral camptodactyly. Hypertonia is frequent. Early in the neonatal period, CS patients develop continuous hyperthermia (unrelated to infectious agents), dyspnea, spells of apnea, and cyanosis during crying. Abnormal central control of respiration may be present at birth, increasing the risk of sudden death. Febrile episodes disappear after the first year of life, whereas feeding difficulties persist. Paradoxal sweating after exposure to low ambient temperatures has been observed in some adolescents.
Etiology
Mutations in the CRLF1 gene are causative.
Differential diagnosis
CS belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome (see these terms).
Genetic counseling
The disease is transmitted as an autosomal recessive trait.
Management and treatment
Surviving patients usually develop severe progressive kyphoscoliosis that requires corset therapy or corrective surgery. Marked feeding difficulties require nasogastric tube feeding.
Prognosis
Characteristic hyperthermic crises frequently lead to death within the first months of life.

                            Last update: 
                            June 2008


                            - Expert reviewer(s): 
                            Pr Didier LACOMBE
Crossed polysyndactyly (ORPHA:2935)
A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.