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]

ORPHA:65743 Synonym(s): Distal arthrogryposis type 8 Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: Q79.8 OMIM: 178110 UMLS: C1867440 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information [orpha.net]

Accompanying joint contractures are almost always present. Genetics The majority of cases carry an autosomal recessive inheritance while a small proportion of cases may carry an X-linked recessive inheritance. [radiopaedia.org]

[…] in 41% of cases Cleft lip(with or without cleft palate) present in nearly all cases 21. [slideshare.net]

• Anemia

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Previous 1 2 3 4 ... 7 Next Last [checkrare.com]

  A CELLULE FALCIFORMI ANEMIA DISERITROPOIETICA CONGENITA ANEMIA SIDEROBLASTICA EREDITARIA BLACKFAN-DIAMOND ANEMIA DI FANCONI ANEMIA DI GLUCOSIO-6-FOSFATO DEIDROGENASI DEFICIT DI METAEMOGLOBINEMIA DA DEFICIT DI METAEMOGLOBINA REDUTTASI PIRIMIDINA 5-NUCLEOTIDASI [updoc.site]

  […] hemoglobin 141749 Methemoglobinemias, beta- 141900 Sickle cell anemia 603903 Thalassemias, beta- 613985 HE S X1 3p14.3 Growth hormone deficiency with pituitary anomalies 182230 Pituitary hormone deficiency, combined, 5 182230 Septooptic dysplasia 182230 [institutobernabeu.com]

  Fanconi anemia panel BRCA2, BRIP1, ERCC4, FANCA, FANCB,... Hemophagocytic Lymphohistiocytosis panel PRF1, UNC13D, STX11, STXBP2 Ichthyosis extended panel ABCA12, ALOX12B, ALOXE3, AP1S1, CERS3,... [centogene.com]

  Schattauer, Stuttgart New York, S 512–513 Google Scholar Giampietro PF, Verlander PC, Davis JG et al. (1997) Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi anemia registry study. [link.springer.com]

• Lymphedema

  hereditary, type 1A FLT4 Lymphedema, hereditary, type IC GJC2 Lymphoproliferative syndrome type 2 CD27 Majeed syndrome LPIN2 Major histocompatibility comples 1 deficiency MR1 Mal de Meleda SLURP1 Mandibuloacral dysplasia with type B lipodystrophy ZMPSTE24 [centogene.com]

  The lag in jugular lymph sac drainage causes obstruction of the tributary lymphatics and peripheral lymphedema [Graham and Smith 1981] and regression of this causes pterygia [3]. [ijri.org]

  […] autosomal recessive 1A 220290 Hystrix-like ichthyosis with deafness 602540 Keratitis-ichthyosis-deafness syndrome 148210 Keratoderma, palmoplantar, with deafness 148350 Vohwinkel syndrome 124500 GJC2 1q42.13 Leukodystrophy, hypomyelinating, 2 608804 Lymphedema [institutobernabeu.com]

  The findings are dwarfism, webbed neck, low hairline, epicanthal folds, mandibular deformity, webbed elbows and knees, coarctation of the aorta, hypertension, lymphedema of the hands and feet, and mental retardation. [emedicine.medscape.com]

• Hemophilia A

  A 306700 F9 Xq27.1 Hemophilia B 306900 Thrombophilia, X-linked, due to factor IX defect 300807 Deep venous thrombosis, protection against 300807 Warfarin sensitivity 122700 FAH 15q25.1 Tyrosinemia, type I 276700 FAM126A 7p15.3 Leukodystrophy, hypomyelinating [institutobernabeu.com]

  The infant had multiple episode of epistaxis, which led to the diagnosis of von Willebrand type III hemophilia. Milestones were delayed; he held his head at age 1 year, he stood at 2 years of age, and walked at age 2.5 years. [bmcgenomdata.biomedcentral.com]

• Failure to Thrive

  She was diagnosed with severe gastro-esophageal reflux which caused several episodes of aspiration pneumonia and failure to thrive. She died at the age of three months from pneumonia and sepsis. [cags.org.ae]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hypoplasia of penis Underdeveloped penis 0008736 Inguinal hernia 0000023 Long philtrum 0000343 Low posterior hairline [rarediseases.info.nih.gov]

  Holly had a diaphragmatic eventration at birth and due to that she had a trach placed at birth because of respiratory failure. It took 2 surgeries to correct it. Also she had a gtube placed due to failure to thrive. [escobarsyndrome.blogspot.com]

  She also carried a posterior cleft palate and neonatal failure to thrive that led to gastrostomy. Facial features included ptosis, low set ears and short neck. A simple sacral dimple was noted, and spinal cord was low set (L2–L3; Figure 3). [nature.com]

• Microstomia

  Facial anomalies include hypertelorism, epicanthal folds, flat nasal root, microretrognathism and microstomia, down-slanting palpebral fissures, low-set malformed ears, and cleft palate. [orpha.net]

  Las anomalías faciales incluyen hipertelorismo, pliegues epicánticos, raíz nasal plana, microretrognatia y microstomia, fisuras palpebrales descendentes, orejas de colocación baja y con malformaciones, y fisura palatina. [femexer.org]

• Skin Disease

  D.K. was supported by the NIH National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR066124). Publisher Copyright: © 2015 by The American Society of Human Genetics. All rights reserved. [experts.umn.edu]

  (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Phone: (301) 251-4925 Toll-free: (888) 205-2311 Website: http://rarediseases.info.nih.gov/GARD/ NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse [rarediseases.org]

• Hearing Impairment

  impairment Low-set ears Growth abnormality Short stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  Anthony Tipling-Bower of Hartley Square in Seaton Sluice, was diagnosed with Escobar Syndrome and a hearing impairment. [freethesaurus.com]

  Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cryptorchidism Undescended [rarediseases.info.nih.gov]

  Variable features include hip dislocation, patellar dislocation, talipes equinovarus, hearing impairment, scoliosis and limitation in elbow joint movements. 3, 5 Type of DA Clinical features Intelligence Synonyms Inheritance Genes DA type 1 (1A & 1B) [iamg.in]

• Tremor

  Myopathy -Abnormal Genitalia Syndrome X,XR,G 99.98 NA of NA MUSK Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome AR 95.58 23 of 25 MYBPC1 Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, Congenital Myopathy With Tremor [igenomix.es]

  HALLERVORDEN-SPATZ MALATTIA DI (NBIA1) KARAK SINDROME DI (NBIA2B) MARINESCO-SJOGREN SINDROME DI NEUROFERRITINOPATIA (NBIA3) PARAPLEGIA SPASTICA EREDITARIA SEITELBERGER MALATTIA DI (NBIA2A) SINDROME ATASSIA-APRASSIA OCULOMOTORIA SINDROME HARP SINDROME TREMORE-ATASSIA [updoc.site]

Froster UG, Stallmach T, Wisser J, Hebisch G, Robbiani MB, Huch R, Huch A: Lethal multiple pterygium syndrome: Suggestion for a consistent pathological workup and review of reported cases. Am J Med Genet 1997;68:82–85. [karger.com]

Clinical Testing and Workup X-rays (radiographs) of the spine can show characteristic changes to the spine and ribs that characterized spondylocostal dysplasia. [rarediseases.org]

Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases. Am J Med Genet. 1997;68(1):82–5. Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics. 1983;72(6):857–63. [bmcmusculoskeletdisord.biomedcentral.com]

J Med Genet 34: 582–586 PubMed Google Scholar Froster UG, Stallmach T, Wisser J et al. (1997) Lethal multiple pterygium. syndrome: Suggestion for a consistent pathological workup and review of reported cases. [link.springer.com]

My Approach: As in the treatment of AMC, Popliteal Pterygium Syndrome and Escobar Syndrome can be treated effectively without loss of motion and therefore most often without the use of an external fixator. [davidsfeldmanmd.com]

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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Its treatment is more difficult than other congenital knee contractures, and treatment is contraindicated if quadriceps function is lost. Treatment of equinus deformity is required to prevent recurrence. [omicsonline.org]

Prepare for clinical challenges and save time in addressing them thanks to expert advice on treatment options from international contributors. [books.google.com]

Examines the initial clinical approach to suspected deformation problems, and then walks you through pathogenesis, diagnostic features, management, prognosis, and counseling for each condition. [books.google.de]

(Outcomes/Resolutions) The prognosis depends on the severity of Multiple Pterygium Syndrome Escobar type has a much better prognosis than the lethal type.This condition does not worsen after birth of the child, and the affected individuals typically do [dovemed.com]

[…] hygroma 4,5 presence of hydrops fetalis craniofacial micrognathia cleft palate 4,5 flattened nasal bridge hypertelorism Ancillary sonographic features that may be present include presence of fetal hypokinesia presence of polyhydramnios Treatment and prognosis [radiopaedia.org]

Prognosis Prognosis depends on the underlying cause but most have a normal lifespan. If, however, there is a central nervous system problem in addition, about half of patients die in the first year. [patient.info]

The overall prognosis of PPS is good. Growth and intelligence are usually normal but success of surgery done for popliteal web depends on the severity of the web. Cryptorchidism may lead to infertility. [casereports.in]

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG. [medscape.com]

RESULTS: The clinical and imaging phenotype was the key factor towards etiological understanding, treatment and genotype confirmation. [minervamedica.it]

From Etiology see pathology Pathology nonlethal form of arthrogryposis multiplex congenita congenital contractures may be caused by reduced fetal movements at sensitive times of development possible causes of decreased fetal mobility include space constraints [anvita.info]

Clinical examination suggested a genetic etiology but a definite diagnosis was not established. The cytogenetic study was normal. [pesquisa.bvsalud.org]

Elsevier Health Sciences, 18.08.2013 - 979 Seiten Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders [books.google.de]

Summary Epidemiology In total, 47 foetuses with LMPS have been reported in 28 families. Of these cases, 28 foetuses were male and 19 were female. Fourteen of the 28 families had affected males only, including five with multiple affected males. [orpha.net]

Relevant External Links for CHRNG Genetic Association Database (GAD) CHRNG Human Genome Epidemiology (HuGE) Navigator CHRNG Atlas of Genetics and Cytogenetics in Oncology and Haematology: CHRNG No data available for Genatlas for CHRNG Gene Escobar syndrome [genecards.org]

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. [pubmed.ncbi.nlm.nih.gov]

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Am J Med Genet A. 2006 Sep 1. 140A(17):1834-9. [Medline]. Lin IW, Chueh HY, Chang SD, Cheng PJ. [medscape.com]

Epidemiology It may occur to some extent in 1 in 3,000 to 1 in 5,000 live births. [ 3 ] The condition is usually detected at birth or before by ultrasound examination. It is often secondary to other conditions. [patient.info]

It is a genetic autosomal recessive disorder whose pathophysiology is still unknown. [pesquisa.bvsalud.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]

Yet, despite these associations, no pathophysiologic mechanism is evident. [3]. [ijri.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]

Our functional studies show that g-subunit mutations prevent the correct localization of the fetal AChR in human embryonic kidney-cell membranes and that the expression pattern in prenatal mice corresponds to the human clinical phenotype. [openaccess.hacettepe.edu.tr]

After birth, the condition does not worsen and nor does it prevent a normal life expectancy. Due to the rarity of the disorder, there are no known figures for the number of people with Escobar (GHR.gov). [tuck.life]

The reason of physiotherapy referral was delay in motor development and prevention of the joints from contracture expecially limited ones. The symptom was evaluated with the Gross Motor Function Measure Test (GMFM). [archhealthscires.org]

Leonie Saffy of Ruabon, Wrexham was born with Escobar Syndrome, which prevented her muscles, bones, and ligaments from growing as they should. [freethesaurus.com]