TaoMedAI/RareMedData huggingface dataset:
Penoscrotal transposition (ORPHA:2842)
A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).
PENS syndrome (ORPHA:313936)
PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.
Pentasomy X (ORPHA:11)
Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).
Epidemiology
The prevalence is unknown but less than 40 cases have been described in the literature so far.
Clinical description
Pentasomy X is associated with developmental delays, short stature, craniofacial anomalies and musculoskeletal abnormalities. The craniofacial anomalies may include microcephaly, micrognathia, plagiocephaly, hypertelorism, upslanting palpebral fissures, a flat nasal bridge and ear malformations. The hands and feet are generally small and camptodactyly, clinodactyly, and radioulnar synostosis are common findings. Immunoglobulin anomalies and an increased susceptibility to infection have also been reported. Cardiovascular malformations may also be present. External genitalia are generally normal but gonadal dysfunction has been reported. Developmental profiles usually show global developmental delay and intellectual disability; however, receptive language skills are usually less severely affected than expressive language abilities.
Etiology
Pentasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis.

                            Last update: 
                            January 2010


                            - Expert reviewer(s): 
                            Dr Natalie AYARI  - Dr A BERGE  - Dr Susan HOWELL  - Dr Nicole TARTAGLIA
Pentosuria (ORPHA:2843)
Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
Epidemiology
The condition occurs essentially in Ashkenazi Jews with an estimated incidence of the heterozygote mutation of 1/79.
Clinical description
Pentosuria is benign and shows no symptoms. The sole biological feature is the constant excretion of L-xylulose in the urine that may be mistaken with glycosuria.
Etiology
It is due to mutations in the DCXR gene on chromosome 17 that codes for L-xylulose reductase (or L-xylitol dehydrogenase), an enzyme that catalyzes the conversion of 1-xylulose into xylitol.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            August 2011
Pericardial and diaphragmatic defect (ORPHA:2847)
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.
Epidemiology
It has been reported in less than 20 patients.
Clinical description
The absence of pericardic tissue is complete or partial. The diaphragmatic hernia is most often left-sided. Some patients have additional digestive tract malformations.
Genetic counseling
The few reported cases were all sporadic except in a family in which the recurrence of these anomalies in two sibs and the parental consanguinity suggested an autosomal recessive inheritance.

                            Last update: 
                            October 2010
Perinatal lethal hypophosphatasia (ORPHA:247623)
A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
Epidemiology
Incidence of Perinatal lethal hypophosphatasia (PL-HPP) is not known. However, the birth prevalence for severe HPP (both perinatal-lethal and infantile forms) is estimated at 1/300,000 in North and West Europe.
Clinical description
Affected infants may have characteristic skin-covered osteochondral spurs protruding from the forearms or legs and often a small thoracic cavity. They may have hypercalcemia associated with apnea or seizures, and marked shortening of the long bones. Patients rarely survive for more than a few days due to inadequate chest size, hypoplastic lungs and rachitic deformities, leading to respiratory failure.
Etiology
Loss of function mutations in the ALPL gene (1p36.12) are known to cause hypophosphatasia. The specific mechanisms underlying PL-HPP have not been elucidated.
Diagnostic methods
Diagnosis is suspected either on prenatal ultrasound findings or clinical presentation at birth, and confirmed by genetic testing (Sanger or next generation sequencing of ALPL).
Differential diagnosis
A benign form of HPP (prenatal benign HPP) has been described in which skeletal abnormalities resolve spontaneously and patients subsequently develop nonlethal HPP, often adult or childhood HPP. Osteogenesis Imperfecta is the most frequent differential diagnosis of this severe form of HPP. Other differential diagnoses include campomelic dysplasia, chondrodysplasia and Stuve Wiedemann syndrome.
Antenatal diagnosis
Suspicious ultrasound findings include short and/or bowed limbs, skeletal hypomineralization, osteochondral spurs and, sometimes, the absence of certain bones (skull, ribs, vertebrae, pubis). Confirmation by genetic testing is indispensable, although correlation between the genotype and the prognosis remains a challenge. Genetic prenatal testing is also possible in at risk families with a previous index case and where at least one mutation has been identified.
Genetic counseling
The reported pattern of inheritance in this form of HPP is autosomal recessive but is not necessarily predictive of the lethal form of HPP.
Management and treatment
Ventilation support is initiated shortly after birth. Prompt diagnosis is essential in order to start targeted therapy. Asfotase alfa is approved (Europe and USA) for enzyme replacement therapy (ERT) in patients with pediatric-onset hypophosphatasia and is associated with improvement of the skeletal manifestations as well as respiratory and motor function.
Prognosis
Perinatal HPP is of poor prognosis when not treated with ERT; however, long term prognosis with ERT is currently unknown.

                            Last update: 
                            February 2020


                            - Expert reviewer(s): 
                            Dr Severine BACROT  - Dr Etienne MORNET
Periodic fever-infantile enterocolitis-autoinflammatory syndrome (ORPHA:436166)
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.
Periodic paralysis with later-onset distal motor neuropathy (ORPHA:397750)
Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy.
Periodic paralysis with transient compartment-like syndrome (ORPHA:397755)
A rare genetic neuromuscular channelopathy characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.
Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature.
Perioral myoclonia with absences (ORPHA:139426)
A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.
Peripapillary staphyloma (ORPHA:519400)
A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon.
Peripartum cardiomyopathy (ORPHA:563)
Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.
Peripheral motor neuropathy-dysautonomia syndrome (ORPHA:2400)
Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome (ORPHA:397744)
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.
Peripheral primitive neuroectodermal tumor (ORPHA:370348)
A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.
Peripheral pulmonary stenosis (ORPHA:99084)
Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.
Peritoneal inclusion cyst (ORPHA:168816)
Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses.
Epidemiology
Fewer than 150 cases have been reported to date. It occurs more frequently in women of child-bearing age.
Clinical description
Clinical features include lower abdominal or pelvic pain, presence of a palpable mass, amenorrhea, dysuria, dyspareunia, and more rarely weight loss. In women, the masses are generally located on the peritoneal surface of the uterus and rectum, while in men they are generally located on the peritoneal surface of the bladder and rectum. The tumor can also spread into the upper portions of the peritoneal cavity.
Etiology
Peritoneal cystic mesothelioma seems to originate from the peritoneal mesothelium. However, etiology is unknown. There is no relation with asbestos exposure. Peritoneal cystic mesothelioma occurs frequently in women with previous history of surgery, pelvic inflammation or endometriosis. Chronic peritoneal irritation may be an aggravating factor.
Diagnostic methods
Diagnosis is based on abdominal and pelvic ultrasound, abdominal computerized tomography (CT) and laparoscopic examination that reveal abdominal multicystic separated grapelike structures. Biopsy shows vascularized, translucent fluid-filled, thin-walled cysts composed of loose connective tissue. Immunohistochemistry confirms the diagnosis by showing the mesothelial origin of the parietal cells (this examination must be reviewed by an expert pathologist).
Differential diagnosis
The main differential diagnoses include cystic peritoneal lymphangioma, pseudomyxoma peritonei (see this term), and other cystic neoplastic lesions.
Management and treatment
The treatment approach is multidisciplinary and must be discussed by a panel of physicians in a specialized center. There are currently no validated recommendations on clinical management and no cytotoxic agents have been granted a European Marketing Authorization (MA) in this indication. Treatment is surgical and is based on ablation of cysts. In case of recurrence or even in first-line treatment, certain teams have proposed combination of cytoreductive surgery with hyperthermic intraperitoneal chemotherapy (HIPEC) (off-label use) in specific patients (young patients with good general status).
Prognosis
Prognosis is usually good. 5-year survival is 100% when the combined treatment is given. With surgery alone, disease inevitably recurs or persists. Invasive or malignant progression has been described.

                            Last update: 
                            March 2011


                            - Expert reviewer(s): 
                            Pr Olivier GLEHEN
Perivascular epithelioid cell neoplasm (ORPHA:595133)
A rare soft tissue tumor characterized by distinctive perivascular epitheloid cells, often arranged radially around a vascular lumen, as well as spindled cells in variable proportion. Melanocytic and muscle markers are typically positive. The tumors have been reported in the uterus, falciform ligament, and large and small intestine, among others. Depending on their location, they may present as a painful or painless mass, or with vaginal bleeding. Tumors displaying infiltrative growth, marked hypercellularity, nuclear enlargement and hyperchromasia, high mitotic activity, atypical mitotic figures, and/or coagulative necrosis should be regarded as malignant.
Periventricular nodular heterotopia (ORPHA:98892)
Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Perlman syndrome (ORPHA:2849)
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
Epidemiology
So far, about 30 patients have been reported in the literature.
Clinical description
The facial dysmorphism is considered as characteristic with upsweeping anterior scalp hair, a depressed nasal bridge, hypotonic appearance with an open mouth, a prominent everted upper lip, and mild micrognathia. Agenesis of the corpus callosum, choroid plexus haemangiomas, cleft palate, dextroposition of the heart, interrupted aortic arch, diaphragmatic hernia, visceromegaly including nephromegaly, hepatomegaly, cardiomegaly, thymus hyperplasia, hepatic fibrosis with porto-portal bridging, abdominal muscular hypoplasia, distal ileal atresia, and cryptorchidism were also described in some patients and maybe components of this syndrome. Hyperinsulinism appears to be an important feature of this disease and may be a preventable cause of death.
Differential diagnosis
The principle differential diagnoses are the Beckwith-Wiedemann (BWS) and Simpson-Golabi-Behmel syndromes (see these terms): mutations the GPC3 gene were excluded as being causative anomalies in several publications and genetic or epigenetic alterations of the 11p15 region (involved in BWS) have never been reported in patients with Perlman syndrome, despite the strong phenotypic similarities between the two syndromes.
Antenatal diagnosis
Prenatal diagnosis may be oriented by ultrasonography searching for macroglossia and renal anomalies (cysts or hypertrophy).
Genetic counseling
The syndrome appears to be inherited in an autosomal recessive manner.
Management and treatment
Management is supportive and should be multidisciplinary.
Prognosis
The prognosis for Perlman syndrome is poor with a high mortality rate, especially in the neonatal period, due to sepsis or progressive respiratory insufficiency. Among the infants who survived beyond the neonatal period, two thirds developed a Wilms' tumor and most had some degree of developmental delay. However, one girl was reported to be alive at the age of 9 and displayed normal psychomotor development.

                            Last update: 
                            May 2008


                            - Expert reviewer(s): 
                            Pr Alain VERLOES
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (ORPHA:65288)
A rare neurologic disease characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period.
Peroxisomal acyl-CoA oxidase deficiency (ORPHA:2971)
Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
Epidemiology
Acyl-CoA oxidase deficiency is a rare disease with only 30-40 patients identified world-wide so far.
Clinical description
The disease manifests in the neonatal period with hypotonia (92%) and seizures (91%) as dominant features. Facial dysmorphism (50%) with hypertelorism, epicanthus, low nasal bridge, and low-set ears may be present. Some children have polydactyly and hepatomegaly. Psychomotor development is delayed, but children are usually able to walk and say a few words. However, neurological regression occurs usually at the age of 1-3 years (mean age: 28 months). Hypotonia is replaced by hypertonia with hyperreflexia. Epilepsy may become more severe and sensorineural hearing loss may appear. Strabismus, nystagmus, and optic atrophy can also occur.
Etiology
Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene (17q25.1) encoding peroxisomal straight-chain acyl-CoA oxidase.
Diagnostic methods
Diagnosis is based on laboratory studies revealing increased serum very-long chain fatty acids (VLCFA) and markedly reduced acyl-CoA oxidase activity in fibroblasts. MRI examination of the brain shows abnormal white matter signals. Diagnosis can be confirmed by the presence of mutations in the ACOX1 gene.
Differential diagnosis
Differential diagnoses include Usher syndrome (see this term) and all causes of neonatal hypotonia. The other peroxisomal disorders should also be discarded, especially neonatal adrenoleukodystrophy (see this term), which presents similar clinical manifestations.
Antenatal diagnosis
Antenatal diagnosis is possible through biochemical and/or molecular analysis of amniocytes or chorionic villus cells.
Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to the families of patients.
Management and treatment
No specific treatment is available. Multidisciplinary supportive care should be offered.
Prognosis
Prognosis is unfavorable; death usually occurs at around 5 years from respiratory issues.

                            Last update: 
                            February 2010


                            - Expert reviewer(s): 
                            Pr R.J.A. [Ronald] WANDERS
Persistent eustachian valve (ORPHA:99120)
A rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of an eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt.
Persistent fifth aortic arch (ORPHA:99076)
A rare, congenital anomaly of the great arteries characterized by an extrapericardial vessel arising from the ascending aorta proximal to the brachiocephalic artery and terminating either in the dorsal aorta or in pulmonary arteries via a persistently patent arterial duct. The resulting connection is a systemic-to-systemic or systemic-to-pulmonary. Clinical manifestation include exercise intolerance, reduced femoral pulses, cyanosis with or without pulmonary hypertension and heart failure. Other congenital cardiovascular anomalies are often present and influence the clinical presentation.
Persistent hyperplastic primary vitreous (ORPHA:91495)
A rare ophthalmic disorder characterized by mostly unilateral failure of the regression of a fetal ocular vessel component, the tunica vasculosa lentis and/or the hyaloid system, resulting in an anterior (presenting with microphthalmia, leukocoria, cataract, glaucoma, elongated ciliary processes, shallow anterior chamber, and retrolental fibrovascular membranes, among others) or posterior disease subtype (with microphthalmia, leukocoria, presence of a retinal fold or detachment, hypo- or dysplastic optic nerve, and vitreous membranes and stalk), respectively. Most patients present with a combination of the two subtypes.
Persistent idiopathic facial pain (ORPHA:398147)
A rare neurological disease characterized by a generally deep, poorly localized, persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder.