Symptoma

X-Linked Fetal Akinesia Syndrome 

FADS

CRANIAL BONE VARIATIONS 217 Vertex Birth Molding 219 Vertex Craniotabes 226 Anterior Fontanelle Bone 230 Parietal Foramina 232 Aplasia Cutis Congenita 235 Cephalohematoma 240 Wormian Bones 245 ABNORMAL BIRTH PRESENTATION 249 Breech Presentation Deformation [books.google.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

We present a sporadic case of lethal MPS presented at our institute. Case Report A 26-year-old G4P3L3A0 was referred to our hospital for USG detected multiple fetal malformations at 23 weeks of gestation. The patient had nonconsanguineous marriage. [jfmpc.com]

  • Fetal Disorder

    Diagnosing lethal fetal disorders has previously been very difficult because of the large number of potential genes, the phenotypic variability associated with many known genetic causes and the challenges of defining phenotype and pathology in a mid-gestation [nature.com]

  • Ankylosis

    Surgery may be needed later to align the angle of ankylosis, but mobility is rarely enhanced. Muscle transfers (eg, surgically moving the triceps so that it can flex the elbow) may improve function. [merckmanuals.com]

    […] albinism type 2 Male pseudohermaphroditism intellectual disability syndrome, Verloes type Spinocerebellar ataxia 4 Ataxia with vitamin E deficiency Intrinsic factor deficiency ALG8-CDG (CDG-Ih) Fibro-adipose vascular anomaly Charcot-Marie-Tooth disease Ankylosis [checkrare.com]

  • Joint Limitation

    limitation or laxity Fetal edema for a variety of reasons (storage, metabolic, heart failure, lymphatic dysplasia, etc.) [rarediseases.info.nih.gov]

  • Fear

    […] the management of the fetus and the neonate with the latest information on the developmental neurology and pathology of the developing central nervous system, so that they can provide prompt and informed treatment of neurological disability - the most feared [books.google.com]

  • Depressed Nasal Bridge

    Within a week, the patient went into spontaneous labor with delivery of 1.4 kg female still born with a large cystic hygroma, depressed nasal bridge, low-set ears with malformation of pinna, cleft lip with partial cleft palate, and bilateral rocker bottom [jfmpc.com]

    nasal bridge Hypoplasia of the maxilla Abnormality of dental morphology Microphthalmia Congenital onset Microcornea CNS hypomyelination Hyporeflexia Segmental peripheral demyelination/remyelination Abnormality of the foot Distal amyotrophy Decreased [mendelian.co]

  • Pelvic Pain

    Brand new chapters provide up-to-date, comprehensive coverage of topics relevant to current practice: -First Trimester Fetal Anatomy -Obstetric Ultrasound and the Obese Patient -Evaluation of Pelvic Pain in the Reproductive Age Patient -Gynecologic Ultrasound [books.google.com]

  • Ovarian Mass

    Features new practice guidelines for obstetric evaluation (including first trimester assessment) and gynecologic management (including evaluation of the endometrium and of ovarian masses). [books.google.com]

  • Ischemic Changes

    Maternal illness, drugs, and antibodies (including maternal myasthenia gravis ) Ischemic changes during embryonic/fetal development, which may be due to developmental vascular abnormalities, trauma, hypotension, drugs, infections, and maternal illness [rarediseases.info.nih.gov]

Focused on treatment: key points boxes pick out the most important information for the busy specialist. Evidence-based information: extensively referenced with the latest and most important papers and articles. [books.google.com]

Last updated: 10/3/2012 The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

Treatment - Fetal akinesia syndrome X-linked Not supplied. Resources - Fetal akinesia syndrome X-linked Not supplied. [checkorphan.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Drug interactions with treatment: colchicine, thalidomide, corticosteroids, immunosuppressants. References : - Salihoglu Z, Dikmen Y, Demiroluk S, Hamzaoglu I, Paksoy M. [sites.uclouvain.be]

Ovulation Tests o Home Fertility Tests o Home Rhesus/RH Blood Type Tests o Home Fetal Tests * Fertility-related Home Testing: o Home Ovulation Tests o Home Fertility Tests * Male Fertility Tests o Home Sperm Tests o Sperm Count Tests o Sperm Motility Tests Prognosis [checkorphan.org]

Prognosis The main point to remember is that AMC is not a progressive disorder. [nationwidechildrens.org]

The perinatal mortality for some of the underlying conditions is as high as 32%, so establishing a specific diagnosis is important for prognosis and genetic counseling. [merckmanuals.com]

Prognosis [ edit ] People with AMC look their worst at birth. AMC is considered non-progressive, so with proper medical treatment, things can improve. The joint contractures that are present will not get worse than they are at the time of birth. [en.wikipedia.org]

Identification of the underlying genetic cause of FADS/MPS facilitates clinical management by providing (a) precise genetic diagnosis, (b) enabling accurate predictions of recurrence risk and prognosis and (c) allowing the possibility of prenatal diagnosis [actaneurocomms.biomedcentral.com]

Etiology The Pena-Shokeir syndrome is not a unitary entity but is etiologically heterogeneous. Maternal myasthenia gravis has been diagnosed in some cases, and experiments in animal models show that curarization of the mother induces fetal akinesia. [orpha.net]

The etiology of arthrogryposis (multiple congenital contracture). Clin Orthop Relat Res. 1985;(194):15-29. Kowalczyk B, Feluś J. Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies. Arch Med Sci. 2016 Feb 1;12(1):10-24. [now.aapmr.org]

Arthrogryposis (Multiple Congenital Contractures): Diagnostic Approach to Etiology, Classification, Genetics, and General Principles. Eur J Med Genet 2014;57:464-472. Filges I, Hall JG. [rarediseases.org]

[…] cryptorchidism, joint contractures, fetal akinesia, cardiac defects, kyphoscoliosis, fetal growth restriction, and intestinal malrotation. [1], [2] The mode of inheritance can be either autosomal recessive, autosomal dominant, or X-linked dominant. [1] The exact etiology [jfmpc.com]

References Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, et al: Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest 126:762-778 (2016). [karger.com]

Summary Epidemiology The syndrome is rare: about 100 cases have been described in the literature. About 30% are stillborn, and the majority of those live-born die of the complications of pulmonary hypoplasia. [orpha.net]

"Arthrogryposis multiplexa congenita: An epidemiologic study of nearly 9 million births in 24 EUROCAT registers". European Journal of Obstetrics & Gynecology and Reproductive Biology. 159 (2): 347–50. doi : 10.1016/j.ejogrb.2011.09.027. [en.wikipedia.org]

Epidemiology including risk factors and primary prevention Arthrogryposis occurs from 1/3000 to 1/5000 live births. 2,3 Males and females are equally affected. [now.aapmr.org]

The Pathophysiology has not yet been established, but one theory postulates that the manifestations are due to a genetically determined insult that causes both a fetal akinesia sequence and jugular lymphatic obstruction sequence. [fetalultrasound.com]

Patho-anatomy/physiology The pathophysiology is related to the specific type of arthrogryposis. Exact mechanisms are not well understood in some subtypes of arthrogryposis. [now.aapmr.org]

For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases. [orphananesthesia.eu]

Prevention - Fetal akinesia syndrome X-linked Not supplied. [checkorphan.org]

Epidemiology including risk factors and primary prevention Arthrogryposis occurs from 1/3000 to 1/5000 live births. 2,3 Males and females are equally affected. [now.aapmr.org]

These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. [icdlist.com]

Introduction Recognizable fetal ultrasound (US) abnormalities are observed in approximately 3–5% of all pregnancies, while congenital abnormalities account for 20–25% of perinatal deaths ( Centers for Disease Control and Prevention, 2008 ; Romosan et [peerj.com]