Lethal congenital contracture syndrome 1 is a fatal form of arthrogryposis, a disorder characterized by non-progressive joint contractures that are present at birth. [sema4genomics.com]

Ectopia lentis is very rare in CCA, but general ocular complications are estimated to be present in 20% of patients with CCA [ 2 ]. [ojrd.biomedcentral.com]

The patient does not present severe physical limitations nor learning difficulties or problems in his social interaction. [pesquisa.bvsalud.org]

LCCS2 Multiple contracture syndrome, Israeli-Bedouin type Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal, Antenatal ICD-10: Q68.8 OMIM: 607598 UMLS: C1843478 MeSH: - GARD: 9177 MedDRA: - The documents contained in this web site are presented [orpha.net]

Postural and limb deformities are present in the variant forms. Intrauterine growth restriction (IUGR). Short umbilical cord. Lethal Multiple Pterygium Syndrome Persistent flexure contraction at the knee. Scoliosis of spine. [fetalultrasound.com]

• Osteoporosis

  […] leprechaunism, megalocornea with multiple skeletal anomalies, Möbius syndrome, nemaline myopathy, oculodentodigital syndrome, ophthalmomandibulomelic dysplasia, orocraniodigital syndrome, otopalatodigital syndrome, Pfeiffer syndrome, Prader-Willi habitus /osteoporosis [emedicine.medscape.com]

  Generalized osteoporosis is well documented, but fractures of long bones are uncommon. A case report with a femoral fracture in a neonate discussed a predisposition versus birth injury due to cesarean delivery [ 6 ]. [ojrd.biomedcentral.com]

  2 Osteoporosis With Pseudoglioma 1 Oto-Palato-Digital Syndrome Type 1 4 Oto-Palato-Digital Syndrome, Type II 3 Otospondylomegaepiphyseal Dysplasia 4 Ovalocytosis 1 Ovarian Dysgenesis 1 4 Ovarian Dysgenesis 2 4 Ovarian Dysgenesis 3 1 Ovarian Dysgenesis [preventiongenetics.com]

• Ankylosis

  Medical care Physical therapy to improve the range of motion and stretch surrounding tissues is very useful, especially in amyoplasia and distal arthrogryposis, although in diastrophic dysplasia it may lead to ankylosis instead. [patient.info]

  Type 1 Spondylometaepiphyseal Dysplasia Short Limb-Hand Type 2 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 2 Spondylometaphyseal Dysplasia, Kozlowski Type 1 Spondyloperipheral Dysplasia 3 Spongy Degeneration Of Central Nervous System 1 Stapes Ankylosis [preventiongenetics.com]

• 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]

  Malabsorption, Hereditary 3 Follicle-Stimulating Hormone Deficiency, Isolated 6 Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 1 Foveal Hypoplasia And Presenile Cataract Syndrome 3 Fragile X Syndrome 4 Fragile X Tremor [preventiongenetics.com]

• Dysarthria

  Pyridoxal phosphate-responsive seizures Pyruvate carboxylase deficiency Rendu-Osler-Weber disease Retinitis Pigmentosa Retinoblastoma RhCE isoimmunization RhD isoimmunization Sandhoff disease Schaaf-Yang syndrome Schwannomatosis Sensory ataxic neuropathy - dysarthria [igenomix.us]

  Familial Neonatal, 2 5 Seizures, Cortical Blindness, Microcephaly Syndrome 1 Sengers syndrome 3 Senior-Loken Syndrome 4 2 Senior-Loken Syndrome 5 5 Senior-Loken Syndrome 6 5 Senior-Loken Syndrome 7 4 Senior-Loken Syndrome 8 2 Sensory Ataxic Neuropathy, Dysarthria [preventiongenetics.com]

Robbiani, Renate Huch and Albert Huch, Lethal multiple pterygium syndrome: Suggestion for a consistent pathological workup and review of reported cases, American Journal of Medical Genetics, 68, 1, (82-85), (1998). H. J. [doi.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Prognosis - Lethal congenital contracture syndrome 1 Prognosis of Lethal congenital contracture syndrome 1: death tends to occur before the 32nd week of pregnancy Treatment - Lethal congenital contracture syndrome 1 Not supplied. [checkorphan.org]

Treatment: No treatment is available. Prognosis: This is a lethal disorder. Ancillary treatments and support: Comfort care. Specialists and specialty centers: Dermatologist, Anesthesiologist. [wohproject.org]

Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer. This site complies with the HONcode standard for health information: verify here. Database updated 2019-02-19. [diseasesdatabase.com]

Currently, there is no cure for this condition and treatment is based on symptoms. [natera.com]

Prognosis - Lethal congenital contracture syndrome 1 Prognosis of Lethal congenital contracture syndrome 1: death tends to occur before the 32nd week of pregnancy Treatment - Lethal congenital contracture syndrome 1 Not supplied. [checkorphan.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]

Prognosis: This is a lethal disorder. Ancillary treatments and support: Comfort care. Specialists and specialty centers: Dermatologist, Anesthesiologist. [wohproject.org]

Self: 6.5% 10.8% 10.4% 5.7% 6.8% Estimated RR when knowns excluded Parents: 4.7% 1.4% 7% 3% 46 If and only if a specific. diagnosis cannot be made If and only if a specific diagnosis cannot be made should a 5% recurrence risk estimation be given 47 Prognosis [slideplayer.com]

Sheldon syndromeFreeman Sheldon syndrome  Escobar syndromeEscobar syndrome  Beal syndromeBeal syndrome  Diastrophic dysplasiaDiastrophic dysplasia 13. 03/13/14 sitanshu TreatmentTreatment  Most children have good prognosisMost children have good prognosis [slideshare.net]

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

Types lethal congenital contracture syndrome type 1 (LCCS1) lethal congenital contracture syndrome type 2 (LCCS2) ( ERBB3 mutations) lethal congenital contracture syndrome type 3 (LCCS3) ( PIP5K1C mutation) Etiology loss of function ERBB3 germline mutations [humpath.com]

GROUPING Muscle Tendon length & placement Peripheral nerve and end plate CNS function Bone Limiting space Maternal illness, medications or trauma Vascular disruption 16 ARTHORGRYPOSIS ETIOLOGIC GROUPING - 1 Muscle (myopathies, and distal arthrogryposes [slideplayer.com]

The etiology for the early cases was attributed to neuromuscular disease, with deformations owing to weakness or paralysis of the motor unit [4]. [wikigenes.org]

[…] muscleFailure of skeletal muscle developmentdevelopment  Muscle disordersMuscle disorders  Vascular causeVascular cause  Defective myogenicDefective myogenic regulatory genesregulatory genes  Pena Shokeir syndromePena Shokeir syndrome  Viral etiologyViral etiology [slideshare.net]

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland—An epidemiological study. Am J Med Genet Part A 140A:1834–1839. [doi.org]

The pathogenetic mechanisms are relatively well known but the epidemiology and genetics of the prenatally lethal forms of arthrogryposis are less well known. [ncbi.nlm.nih.gov]

Analytical, diagnostic and therapeutic context of LCCS1 Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study [6]. [wikigenes.org]

Relevant External Links for GLE1 Genetic Association Database (GAD) GLE1 Human Genome Epidemiology (HuGE) Navigator GLE1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: GLE1 No data available for Genatlas for GLE1 Gene Mutations in mRNA [genecards.org]

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]

Prevention - Lethal congenital contracture syndrome 1 Not supplied. Diagnosis - Lethal congenital contracture syndrome 1 Not supplied. [checkorphan.org]

Prevention Genetic advice may be essential to prevent arthrogryposis. Extrinsically derived contractures have a low recurrence risk but the recurrence risk for intrinsically derived contractures depends on the aetiology. [patient.info]

Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended. [ojrd.biomedcentral.com]

Less muscle and less calcification of bone means less weight Avoid obesity – makes for more work Some limbs grow even less normally (like post-polio) 42 CHALLENGES – Not miss opportunities Stretching, weight bearing Avoid muscle atrophy, night splints Prevention [slideplayer.com]

For example, the nuclear retention signals in the nonshuttling hnRNP proteins prevent the transport of hnRNPs regardless of the presence of the NES in hnRNP A1 protein ( 45, 46 ). [dx.doi.org]