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]

Surgical options available and the risks and benefits of said options vary depending on the signs and symptoms present in each individual. [rareguru.com]

Dimples at the knees and other joints might be present. [bmcgenomdata.biomedcentral.com]

In this case report we present a seven year old Indian boy with… Figures and Tables from this paper References SHOWING 1-10 OF 24 REFERENCES [semanticscholar.org]

[…] variant multiple pterygium syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Antenatal, Infancy, Neonatal ICD-10: Q79.8 OMIM: 265000 618469 UMLS: - MeSH: - GARD: 7111 MedDRA: - The documents contained in this web site are presented [orpha.net]

• 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]

• Sloping Shoulders

  […] pterygia Popliteal pterygium Pterygium Abnormality of the musculoskeletal system Anterior clefting of vertebral bodies Arthrogryposis multiplex congenita Camptodactyly Camptodactyly of toe Congenital diaphragmatic hernia Diaphragmatic eventration Down-sloping [ncbi.nlm.nih.gov]

• Low Back Pain

  Domany E, Gilad O, Shwarz M, Vulfsons S, Garty BZ: Imperforate hymen presenting as chronic low back pain. Pediatrics 2013;132:e768-e770. Sertoz N, Gunay H, Karaman S: Anesthetic approach to a patient with multiple pterygium (Escobar) syndrome. [karger.com]

• 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]

• Widely Spaced Nipples

  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]

  spaced nipples Neurologic Abnormality Failed fusion of posterior neural arches Skeletal Abnormal ossicles Abnormality of ribs Absent or dysplastic patella Anterior clefts of vertebral bodies Distal radioulnar separation Fusion of vertebrae or fused laminae [datagenno.com]

• Downturned Corners of the Mouth

  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]

  corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Dysplastic patella 0006446 Exostosis of the external auditory canal 0004459 Fused cervical vertebrae Fused neck 0002949 Hip dislocation Dislocated hips Dislocation of [rarediseases.info.nih.gov]

• Epistaxis

  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]

• Pelvic Pain

  Grandi G, Xholli A, Ferrari S, Cannoletta M, Volpe A, Cagnacci A: Intermenstrual pelvic pain, quality of life and mood. Gynecol Obstet Invest 2013;75:97-100. [karger.com]

• Chronic Pelvic Pain Syndrome

  Fenton BW, Brobeck L, Witten E, Von Gruenigen V: Chronic pelvic pain syndrome-related diagnoses in an outpatient office setting. Gynecol Obstet Invest 2012;74:64-67. [karger.com]

• Imperforate Hymen

  Patients with Escobar syndrome may suffer from abdominal pain due to imperforate hymen. [karger.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]

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]

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]

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]

As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. Infections should be treated promptly. Contracture releases have been performed with variable outcome. [rareguru.com]

It tends to be inherited in an autosomal recessive fashion.[1555][1557] While there is still no cure for this disorder, treatment options will depend on the type and severity of symptoms. For more information, visit GARD. [rarediseases.org]

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]

[…] 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]

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]

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]

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

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

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

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]

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]

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]

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]

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]

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]

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]

Treatment of equinus deformity is required to prevent recurrence. Aggressive treatments should be avoided to prevent disruption of ambulation. [omicsonline.org]