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]

• Disability

  “Noah is disabled and will have life challenges, but I want him to be treated as a normal little boy. I want him to feel that he is, in most ways, the same as everyone else,” said Sharon. [irishexaminer.com]

  #surgerytok #disability #hospitallife #medical #perserverance #mentaltoughness". original sound - Grace Nova. 59.6K views| original sound - Grace Nova livv.stone Liv Stone 625.8K Likes, 4.8K Comments. [tiktok.com]

  […] hernia Knee flexion contracture Kyphosis Long clavicles Micrognathia Multiple joint contractures Rib fusion Scoliosis Thoracolumbar scoliosis Umbilical hernia Weakness of facial musculature Abnormality of the nervous system Gait disturbance Intellectual disability [ncbi.nlm.nih.gov]

  Please enable JS and disable any ad blocker [contemporaryobgyn.modernmedicine.com]

  Prescribing therapy services for children with motor disabilities. Pediatrics. 2004 Jun. 113(6):1836-8. [Medline]. van Bosse HJP. Orthopaedic care of the child with arthrogryposis: a 2020 overview. Curr Opin Pediatr. 2019 Nov 16. [Medline]. [medscape.com]

• Hyperthermia

  Laboratory test should include creatine phosphokinase because of the association in one case of malignant hyperthermia (no certitude). [accessanesthesiology.mhmedical.com]

  Multiple pterygium syndrome: a case complicated by malignant hyperthermia. Clin Genet. 1987;32(1):5–9. [bmcmusculoskeletdisord.biomedcentral.com]

  There is no consensus regarding the risk of malignant hyperthermia in patients with Escobar syndrome. [juniperpublishers.com]

  Further perioperative challenges faced were intraoperative hyperthermia and postoperative pneumothorax with mediastinal shift. [ecommons.aku.edu]

  Malignant hyperthermia was described as a major complication before death in a brother and a sister with LMPS. [orpha.net]

• Epilepsy

  Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Nocturnal frontal lobe epilepsies (OMIM 600513, OMIM 605375, OMIM 610353, and OMIM 615005) are a group of idiopathic partial epilepsies characterized by clustered attacks of brief motor seizures, mostly [nature.com]

  Ingo Helbig is a child neurologist and epilepsy genetics researcher working at the Children’s Hospital of Philadelphia (CHOP), USA. He also leads the epilepsy genetics group at the University of Kiel, Germany. [epilepsygenetics.net]

  IRE 21q22.3 Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia 240300 A LDH3A2 17p11.2 Sjogren-Larsson syndrome 270200 A LDH5A1 6p22.3 Succinic semialdehyde dehydrogenase deficiency 271980 A LDH7A1 5q23.2 Epilepsy [institutobernabeu.com]

  It can be a part of connective tissue disorders [3] A common cause can be disorders arriving from the muscles including muscular dystrophy, mitochondrial disorders, myositis, and myopathies. [6] Systemic Involvement Neurologic abnormalities including epilepsy [physio-pedia.com]

  Cytopathy, Mitochondrial Myopathy, Mitochondrial Encephalomyopathy ICD 10: G731.81 Synonyms: Mitochondrial diseases with typical combinations of clinical symptoms: Kearns-Sayre syndrom, progressive external ophthalmoplegia, Pearson syndrome, myoclonic epilepsy [orphananesthesia.eu]

• Fever

  Gershoni-Baruch R, Shinawi M, Leah K, Badarnah K, Brik R: Familial Mediterranean fever: Penetrance and genetic draft. Eur J Hum Genet 2001;9:634–637. [karger.com]

  […] going to bed (sometimes causing insomnia); may be relieved temporarily by walking or moving the legs Reye's syndrome - acquired encephalopathy following acute viral infections (especially influenza or chicken pox) in young children; characterized by fever [thefreedictionary.com]

  AD 134610 Familial Mediterranean fever, AR 249100 M FSD8 4q28.2 Ceroid lipofuscinosis, neuronal, 7 610951 Macular dystrophy with central cone involvement 616170 M GAT2 14q21.3 Congenital disorder of glycosylation, type IIa 212066 M ID1 Xp22.2 Opitz [institutobernabeu.com]

  Periodic fever syndrome panel ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1,... Primary antibody deficiency panel ADA, AICDA, ATM, BLNK, BTK, CD19, CD40,... Susceptibility to atypical mycobacterium disease panel CYBB, IFNGR1, IFNGR2, IKBKG, IL12A,... [centogene.com]

• Surgical Procedure

  Chris, age 27 There is no cure, fix or solution to Escobar syndrome, but there are many surgical procedures that improve the quality of life of those living with the disorder. [tuck.life]

  Surgical procedures for feet deformities, heel cord lengthening, knee tendon release to improve knee flexion, right inguinal hernia and cryptorchidism were done for him. [cags.org.ae]

• 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]

• Strabismus

  Variable eye features include ophthalmoplegia, strabismus, ptosis, pigmentary maculopathy, keratoconus and an abnormal electroretinogram. [iamg.in]

  It is characterized by a masklike face with a small mouth, giving a whistling face appearance; deep-set eyes; small nose with a broad nasal bridge; epicanthal folds; strabismus; high arched palate; small tongue; an H-shaped cutaneous dimpling on the chin [emedicine.medscape.com]

  Small lung Underdeveloped lung [ more ] 0002089 Rib fusion Fused ribs 0000902 Scrotal hypoplasia Smaller than typical growth of scrotum 0000046 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Spina bifida occulta 0003298 Strabismus [rarediseases.info.nih.gov]

  Facial dysmorphism included hemangioma over forehead and nose, strabismus, flat nasal bridge, downturned corners of mouth. Whole body X-rays did not show major abnormality. Fig. 1 Pedigrees for families included in this study. [bmcgenomdata.biomedcentral.com]

• Pterygium Colli

  Multiple Pterygium Syndrome; Escobar Syndrome; Pterygium Universale; Pterygium Colli Syndrome. First described in 1978 by V. Escobar, an American physician. Remains unknown; however, several cases have been described. [accessanesthesiology.mhmedical.com]

  […] syndrome; pterygium colli syndrome; pterygium universale Keywords Multiple pterygium syndrome, Escobar variant; ICD 10: Q97.8; Escobar syndrome; pterygium syndrome; multiple pterygium syndrome, non-lethal type; familial pterygium syndrome; pterygium colli [ai-online.info]

  It is alsocalled as Pterygium Colli syndrome, Escobar syndrome or Pterygiumsyndrome. [acarindex.com]

  It is also called as Pterygium Colli syndrome, Escobar syndrome or Pterygium syndrome. Escobar (multyple pterygium) syndrome is a rare syndrome. [eajm.org]

• Alopecia

  […] arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia [pubmed.ncbi.nlm.nih.gov]

  Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Some patients have retinal vascular abnormalities predisposing to retinal detachment in early childhood. Cognitive delays/mental retardation are occasionally seen. [en.wikipedia.org]

  […] nonsyndromic SLC24A5 Albinism, oculocutaneous type 1A TYR Albinism, oculocutaneous type 1B TYR Albinism, oculocutaneous type 2 OCA2 Albinism, oculocutaneous type 3 TYRP1 Albinism, oculocutaneous type 4 SLC45A2 Albinism, oculocutaneous type 5 C10ORF11 Alopecia [centogene.com]

  Platelet-rich plasmaan 'Elixir' for treatment of alopecia: personal experience on 117 patients with review of literature. Stem Cell. Investig. 4, 64 (2017). [nature.com]

  Nephrolithiasis, type I 310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 308990 CLCN7 16p13.3 Osteopetrosis, autosomal dominant 2 166600 Osteopetrosis, autosomal recessive 4 611490 CLDN1 3q28 Ichthyosis, leukocyte vacuoles, alopecia [institutobernabeu.com]

• Myopathy

  With External Ophthalmoplegia, Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset AD,AR 97.63 733 of 746 SCN4A Congenital [igenomix.es]

  Muscle relaxant should be used with careful monitoring (muscle weakness, myopathy) and only after airway is secured. [accessanesthesiology.mhmedical.com]

  Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore [orphananesthesia.eu]

  […] and large areas of myofibrillar disorganisation initially diagnosed as centronuclear myopathy [18]. [bmcmusculoskeletdisord.biomedcentral.com]

  […] mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy [hal.archives-ouvertes.fr]

• Lordosis

  Associated anomalies may include rib defects, scoliosis or lordosis, vertical talus, cryptorchism, hypoplastic labia majora, and mental retardation. [whonamedit.com]

  / retrognathia Short / small nose Flattened nose Midline cleft lip Cleft hard palate High vaulted and narrow palate Other abnormality of tongue / gingivave / mucosa Low set ears Webbed neck / excess skin / cystic hygroma Scoliosis Accentuated lumbar lordosis [mediscansystems.org]

  Other typical findings include growth retardation, ankyloglossia (adhesions between the tongue and the palate), syngnathia (congenital bands of tissue between the maxilla and the mandible), cleft palate, lumbar lordosis and scoliosis. [ai-online.info]

  The spine was malaligned with lumbar lordosis and kyphoscoliosis. Mild webbing of axilla and interdigital webbing crossing all interphalangeal joints were found but had no antecubital or popliteal webbing. [cags.org.ae]

  […] associated with malignant hyperthermia Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck that increases with age, webbing of the knees and elbows that develops before adolescence, multiple joint contractures, and lumbar lordosis [medscape.com]

• Low Set Ears

  Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. [abcam.com]

  Pterygium of the neck, low posterior hairline, widely spaced nipples, cubitus valgus, upslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, downturning corners of the mouth, long philtrum, high-arched palate, digital and intercrural [degruyter.com]

  Abnormalities of the head usually consist of epicanthal microcephaly, skin folds, long philtrum, antimongoloid palpebral slant, low-set ears, pointed and receding chin, ptosis, down-turned angles of the mouth, cleft lip and palate, and hemangiomas of [whonamedit.com]

  set ears Webbed neck / excess skin / cystic hygroma Scoliosis Accentuated lumbar lordosis Contractures of large joints (soft tissue) Webbing / pterygia of multiple joints Camptodactyly (flexion deformity of some fingers) Ulnar deviation of fingers Talipers [mediscansystems.org]

  Pregnancy termination Findings: generalized edema, multiple pterygia, hypertelorism, flat nose, low set ears, short neck, cystic hygroma, clubbed feet 185 Akinesia, hydramnios, fixed and short limbs, clubbed feet Same and hypoplastic lungs 146 Cystic [thefetus.net]

• 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]

• Short Neck

  Pregnancy termination Findings: generalized edema, multiple pterygia, hypertelorism, flat nose, low set ears, short neck, cystic hygroma, clubbed feet 185 Akinesia, hydramnios, fixed and short limbs, clubbed feet Same and hypoplastic lungs 146 Cystic [thefetus.net]

  [from OMIM] Show allHide all Abnormality of head or neck Cleft palate Dental malocclusion Downslanted palpebral fissures Downturned corners of mouth Epicanthal fold High palate Long face Long philtrum Narrow mouth Short neck Triangular mouth Abnormality [ncbi.nlm.nih.gov]

  Her neck was short and webbed with low and wide posterior hairline. [cags.org.ae]

  Facial abnormalities like gaping mouth, cleft palate, hypertelorism, low set ears and short neck were seen. Pterygia were present at the knee joint, ankle joint and at the web space between the great toe and second toe [Figure - 5]. [ijri.org]

  neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. [pubmed.ncbi.nlm.nih.gov]

• Seizure

  Mean seizure frequency in autosomal dominant nocturnal frontal lobe epilepsy is about 20 per month. [nature.com]

  About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, mental retardation, and seizures. [en.wikipedia.org]

  CrossRef CAS PubMed Google Scholar Holtmann M, Woermann FG, Boenigk HE: Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures “a syndrome” Neuropediatrics 32:264–266, 2001. [link.springer.com]

  […] muscle compressing the subclavian artery and part of the brachial plexus apyretic tetanus, intermittent cramp, intermittent tetanus, tetanilla, tetany - clinical neurological syndrome characterized by muscular twitching and cramps and (when severe) seizures [thefreedictionary.com]

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]

• Polyps

  […] blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp [pubmed.ncbi.nlm.nih.gov]

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]

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]

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]

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]