TaoMedAI/RareMedData huggingface dataset:
Post-traumatic pituitary deficiency (ORPHA:95619)
A rare, acquired, endocrine disorder characterized by deficiency of one or more of the pituitary hormones resulting as a consequence of traumatic or medically-induced injury of the pituitary gland. Clinical presentation is variable depending on the nature and acuity of the injury and the resulting order and amount of hormone deficiency.
Postaxial acrofacial dysostosis (ORPHA:246)
A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia.
Epidemiology
Less than 30 cases of Postaxial acrofacial dysostosis (POADS) have been described in the literature.
Clinical description
Clinical features further include cholestasis, bilateral inguinal hernia and cleft palate. The patients can develop myopic astigmatism and speech delay can be present. Facial features include sparse eyebrows, almond shaped eyes with up-slanting palpebral fissures, malar hypoplasia, long philtrum, small mouth, and low-set, malformed ears.
Etiology
The disease arises from biallelic gene mutations for the enzyme dihydroorotate dehydrogenase (DHODH, 16q22.2), involved in pyrimidine biosynthesis. Nonetheless, despite demonstrated loss of enzyme activity, dihydroorotate (DHO) has not been shown to accumulate.
Diagnostic methods
DHODH mutations can be determined by PCR and Sanger sequencing. Analysis of DHO and orotic acid (OA) in urine, plasma and blood-spot test can be performed using liquid chromatography-tandem mass spectrometry.
Differential diagnosis
The clinical phenotype of Miller syndrome overlaps with mandibulofacial and other acrofacial dysostosis syndromes including Treacher Collins, Guion-Almeida (mandibulofacial dysostosis with microcephaly) and Nager syndromes.
Antenatal diagnosis
Due to postaxial oligodactyly of fingers and toes, the diagnosis can be established prenatally on clinical grounds and confirmed by molecular testing.
Genetic counseling
Inheritance appears to be autosomal recessive. For parents of an affected individual, there is a 25% risk of having and affected child at each pregnancy. Recurrence risk for children of an affected individual is low if there is no consanguinity.
Management and treatment
The patients do not usually need surgical treatment, but sometimes need hearing aids. Logopedic treatment might be helpful.
Prognosis
There is usually no reduced life expectancy, but intrauterine death has been described.

                            Last update: 
                            December 2020


                            - Expert reviewer(s): 
                            Pr Dagmar WIECZOREK | ITHACA*


                                * European Reference Network
Postaxial polydactyly type A (ORPHA:93334)
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.
Postaxial polydactyly type B (ORPHA:93335)
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome (ORPHA:420584)
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.
Postaxial polydactyly-dental and vertebral anomalies syndrome (ORPHA:2916)
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.
Postaxial tetramelic oligodactyly (ORPHA:2730)
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.
Postcardiotomy right ventricular failure (ORPHA:263352)
A rare cardiac condition characterized by acute severe right ventricular failure with subsequent hemodynamic instability following a cardiac surgical procedure. Predisposing factors include suboptimal myocardial protection during surgery, long cardiopulmonary bypass time, right ventricular myocardial ischemia or infarction, atrial arrhythmias, reperfusion lung injury with secondary pulmonary hypertension, post-operative pulmonary micro- or macro-embolism, and pre-existing pulmonary vascular disease, among others.
Posterior amorphous corneal dystrophy (ORPHA:98971)
Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.
Epidemiology
Prevalence of this form of corneal dystrophy is not known. To date cases have been reported primarily in the USA.
Clinical description
Patients usually develop corneal abnormalities in infancy or childhood. The condition is non-progressive or slowly progressive. Visual acuity is usually only minimally affected but in some more severe cases, penetrating keratoplasty (PK) may be warranted. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris (iridocorneal adhesions, corectopia, and pseudopolycoria).
Etiology
The etiology of the condition is not known but it is thought to be genetic. The chromosomal locus of the gene responsible for PACD has not been determined.
Diagnostic methods
Opacities are diffuse gray-white and sheet-like and can involve any layer of the stroma but are most prominent posteriorly. The lesions can be centroperipheral, extending to the limbus, or peripheral, the latter with less pronounced findings and symptoms. There are often transparent stromal breaks in the opacification.
Genetic counseling
An autosomal dominant pattern of inheritance has been reported.
Management and treatment
Since the entire stroma is involved, a penetrating kertopasty is indicated if visual impairment is clinically significant.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Posterior column ataxia-retinitis pigmentosa syndrome (ORPHA:88628)
Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.
Epidemiology
Around 20 cases have been described in the last 50 years.
Clinical description
Onset of symptoms usually occurs in childhood. The clinical picture is progressive, homogenous and includes severe sensory ataxia, proprioceptive loss (affecting the iliac crest, upper limbs and thorax), generalized areflexia and diffuse pigmentary retinopathy leading to blindness. Scoliosis, camptodactyly, achalasia and/or gastrointestinal motility dysfunction may also be present.
Etiology
The disease is associated with degeneration of the posterior column of the spinal cord. The causative gene, FLVCR1 (1q32.3), has been identified and localized to the AXPC1 locus (1q32-q31).
Genetic counseling
Transmission is autosomal recessive or pseudodominant.
Prognosis
The disease evolves progressively, in some cases leading to a total loss of walking ability and vision after 10 to 30 years of progression.

                            Last update: 
                            May 2011
Posterior corneal dystrophy (ORPHA:98627)
Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.
Epidemiology
Prevalence of this group of corneal dystrophies is unknown.
Clinical description
Age of onset is variable. Five subtypes of posterior CD have been identified and include: Fuchs endothelial CD, Posterior polymorphous CD, Congenital hereditary endothelial dystrophy I and II, and X-linked endothelial CD (see these terms).
Etiology
Posterior corneal dystrophies, like other corneal dystrophies, appear to be genetic disorders. Although the various subtypes have mostly been described in detail, a relationship between some of them has been suggested on the basis of molecular genetic data. There is both phenotypic and allelic heterogeneity. Mutations in the following genes have been found in association with posterior CD: COL8A2 (1p34.2-p32.3), SLC4A11 (20p12), VSX1 (20p11.21), and ZEB1 (10p11.22).
Genetic counseling
Transmission is autosomal dominant or recessive, or X-linked recessive depending on the type.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome (ORPHA:2064)
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
Posterior polymorphous corneal dystrophy (ORPHA:98973)
A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.
Epidemiology
Prevalence of this form of corneal dystrophy is unknown.
Clinical description
Lesions generally develop in early childhood and are mostly bilateral but may be asymmetrical or unilateral in some cases. Most patients are asymptomatic with no corneal edema, but progressive visual impairment due to stromal clouding may rarely occur.
Etiology
PPCD is a genetically heterogenous condition with extremely variable expression. Three genes have been implicated: VSX1 (20p11.21), COL8A2 (1p34.2-p32.3), and ZEB1 (10p11.22), but the evidence implicating VSX1 and COL8A2 is questionable.
Diagnostic methods
Multiple layers of collagen manifesting as focal fusiform or nodular excrescences are found on the posterior surface of Descemet membrane.
Differential diagnosis
PPCD should be distinguished from congenital endothelial dystrophy type 1 (CHED1, see this term), since the two conditions share certain morphological and clinical features.
Genetic counseling
An autosomal dominant pattern of inheritance has been reported.
Management and treatment
Most patients with PPCD do not require therapy, but some may eventually require a penetrating keratoplasty or a procedure for repairing the posterior surface of the cornea, such as a deep lamellar endothelial keratoplasty (DLEK), Descemet stripping endothelial keratoplasty (DSEK), or Descemet stripping automated endothelial keratoplasty (DSAEK).

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others.
Postinfectious vasculitis (ORPHA:48435)
Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.
Clinical description
CMV induces vasculitis mainly in immunocompromised patients. Lesions may be cerebral, retinal, colonic, radicular... In less common cases, vasculitis affects immunocompetent patients, thus resembling polyarteritis nodosa (PAN) or cutaneous angiitis. Varicella-Zoster virus (VZV) is responsible for two types of vasculitides which are sometimes associated: · a vasculitis affecting large arteries which usually affects the anterior cerebral circulation and is characterized by an acute focal deficit. Most often it occurs in immunocompetent adults after zoster of trigeminal distribution. · a vasculitis affecting small cerebral vessels occurring in immunocompromised individuals and is responsible for multifocal deficit. VZV vasculitis can appear a few months after rash or even without any rash. HIV is responsible for a protean group of vasculitides. Vessels of all sizes may be affected and histological findings are variable. Nevertheless a particular form consists in a necrotizing vasculitis of the aorta and large arteries (resembling Takayasu's arteritis) with aneurysm formation and risk of rupture. Parvovirus B19 has been incriminated in some cases of PAN, cutaneous and placenta angiitis or pseudo Henoch-Schönlein purpura. Other case reports mention vasculitis related to hepatitis A virus, HTLV1 (Human T-cell Leukemia Virus 1), EBV (Epstein-Barr virus) persistent infection, Hantaan virus.
Etiology
Pathophysiology is partially misunderstood. However, mechanisms including direct injury by the virus or vascular damage resulting from immune reaction are incriminated. For instance, endothelial infection by CMV (cytomegalovirus) seems to play a major role in the occurrence of a vasculitis. Immune complexes, associating an immunoglobulin and a viral antigen, can lead to vasculitis because of the activation of complement and inflammatory cells. Few virus are thought to be responsible for vasculitis even though their triggering role is not always easily confirmed.
Management and treatment
Treatment is based on antiviral agents. Corticotherapy and immunosuppressants are very controversial because of the risk of virus replication. A least, for some authors, adjuvant treatment with immunoglobulins or plasma exchange may be helpful.

                            Last update: 
                            September 2003
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.
Postorgasmic illness syndrome (ORPHA:279947)
Postorgasmic illness syndrome is a rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset.
Postpartum psychosis (ORPHA:443173)
A rare gynecologic or obstetric disease characterized by an abrupt onset of psychiatric symptoms during the first weeks after childbirth. Clinical features include mood changes, depression, anxiety, delusions, and hallucinations, among others. The disease is associated with a risk of suicide or infanticide, as well as an increased risk for recurrence after the next pregnancy and future non-pregnancy related psychotic episodes.
Postpoliomyelitis syndrome (ORPHA:2942)
Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis (see this term), 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing.
Posttransplant acute limbic encephalitis (ORPHA:163921)
Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.
Postural orthostatic tachycardia syndrome due to NET deficiency (ORPHA:443236)
A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.
Potassium-aggravated myotonia (ORPHA:612)
A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.
Epidemiology
These diseases are very rare and their prevalence is unknown.
Clinical description
Myotonia develops during childhood or adolescence and is, by definition, aggravated by potassium ingestion. Cold sensitivity is not systematic but when present, it can be of varying severity. Myotonia is rarely associated with attacks of weakness. Some patients describe a warm-up phenomenon while others report an exacerbation with exercise. Myalgias and cramps are frequent. Intensity and topography of myotonic symptoms may vary. In myotonia fluctuans, episodes of stiffness vary in severity and frequency, and occur during the resting period following exercise. In myotonia permanens, myotonia is continuous and severe and can significantly impair respiration. In acetazolamide-responsive myotonia, stiffness is often painful and myotonia is triggered by fasting and mildly by exercise and cold exposure.
Etiology
PAM is a sodium muscle channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4.
Diagnostic methods
Diagnosis is based on clinical history, physical exam, electromyographic (EMG) and genetic tests. EMG features comprise myotonic discharges and normal responses to the provocative tests (repeated short exercise tests with and without cooling). CPK levels vary depending on myotonia severity.
Differential diagnosis
Differential diagnoses include myotonia congenita (see this term), and cold sensitive myotonias such as paramyotonia congenita and hyperkalemic periodic paralysis with paramyotonia.
Genetic counseling
Transmission is autosomal dominant. Genetic counseling should be offered to affected families informing them of the 50% risk that the child of an affected parent has of inheriting the disease-causing mutation.
Management and treatment
Management of patients consists in medical therapy and avoidance of triggering factors (such as potassium-rich food). Mexiletine or carbamazepine is the treatment of choice except in acetazolamide-responsive myotonia where symptoms dramatically improve with acetazolamide. Physical therapy management with massages and stretching may be useful for pain and retractions. In each condition, close monitoring is necessary during surgery. Depolarizing agents can cause severe ventilation problems due to a paradoxical increase of stiffness in respiratory muscles and must be avoided.
Prognosis
Prognosis is good with stability of symptoms during life but respiratory function may be compromised in severe myotonia permanens.

                            Last update: 
                            October 2010


                            - Expert reviewer(s): 
                            Dr Savine VICART
Potocki-Shaffer syndrome (ORPHA:52022)
A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.
Pouchitis (ORPHA:217067)
A rare intestinal disease characterized by non-specific inflammation of the ileal reservoir following ileal pouch anal anastomosis surgery. It generally occurs after the restoration of the fecal stream through the pouch and may be classified as acute or chronic, depending on the symptom duration (less or more than 4 weeks). Clinical presentation is variable and unspecific and commonly includes increased stool frequency and fluidity, rectal bleeding, abdominal cramps, bowel urgency, tenesmus, and nocturnal bowel incontinence.
PPARG-related familial partial lipodystrophy (ORPHA:79083)
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.
PPoma (ORPHA:97278)
PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term).
Prader-Willi-like syndrome (ORPHA:398073)
A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.