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108 Possible Causes for Arachnodactyly, Postural Defect

  • Homocystinuria

    The girl presented at the age of 13 years with macrocytic anaemia, cognitive regression and Marfanoid features such as increased arm-span, arachnodactyly, joint hyperlaxity[ncbi.nlm.nih.gov] Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence[fpnotebook.com] Clinical features include a tall slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence[icd10data.com]

  • Cerebro-Oculo-Facio-Skeletal Syndrome

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net] […] in connective tissue. 2, 9 On physical examination the distinguishing characteristics are: wrinkled ears or crushed, flexion contractures of the fingers, which are long arachnodactyly[milyyjess.blogspot.com] […] tongue, short neck, syndactyly of all toes, bone synostosis 9 and stenosis and anal polyps. 12 Beals syndrome type 9 autosomal dominant (OMIM 121050): Also called congenital Arachnodactyly[milyyjess.blogspot.com]

  • Cutis Laxa

    Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations.[ncbi.nlm.nih.gov] Apart from overgrowth, cutis laxa, arachnodactyly of hands and feet with contractures of the third to fifth finger, medial rotation of feet, spina bifida of the os sacrum,[ncbi.nlm.nih.gov] […] date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly[ncbi.nlm.nih.gov]

  • PIBIDS Syndrome

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net] Marfan's Syndrome Striae distensae, abdominal wall hernias, elastosis perforans serpiginosa, upward ectopia lentis, tall stature, hyperextensible joints, pectus excavatum, arachnodactyly[superteachertools.us] […] growth and development, genital abnormalities, and ear malformations association Congenital absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly[emedcodes.com]

  • Cerebro-Oculo-Facio-Skeletal Syndrome 1

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net] […] growth and development, genital abnormalities, and ear malformations association Congenital absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly[icd9data.com]

  • Cerebrooculofacioskeletal Syndrome Type 4

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net] , Beals syndrome (congenital heart disease, scoliosis, arachnodactyly, and “crumpled ears”), and Larsen syndrome (anterior dislocation of the knees) [ 1 , 39 ]. 2.1.4.[hindawi.com] […] growth and development, genital abnormalities, and ear malformations association Congenital absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly[icd9data.com]

  • Van den Bosch Syndrome

    Postural unsteadiness is evident when patients begin walking.[disorders.eyes.arizona.edu] Acronym VDEGS Synonyms Blepharophimosis arachnodactyly and congenital contractures Marden-Walker-like syndrome without psychomotor retardation Any medical or genetic information[uniprot.org] Hepatomegaly and jaundice may also be an early diagnostic feature as bile acid metabolism is defective. Infant hypotonia is often seen.[disorders.eyes.arizona.edu]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Cardiac defects, diaphragmatic hernia, omphalocele. Eye malformations (congenital cataracts and corneal ulceration).[fetalultrasound.com] […] arthrogryposis ) are common scoliosis variable other features include intrauterine death congenital respiratory distress short stature faciocranial dysmorphism ptosis low-set ears arachnodactyly[anvita.info] Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism[uniprot.org]

  • Klippel-Feil Syndrome

    Because no evidence of ventricular septal defects and conduction-system abnormalities were detected, we ruled out Holt-Oram syndrome.[ispub.com] Cole-Carpenter syndrome 1 P4HB Del Dup NGS Cole-Carpenter syndrome 2 SEC24D Del Dup NGS Cole-Carpenter syndrome NGS panel P4HB, SEC24D Del Dup NGS Congenital contractural arachnodactyly[ctgt.net] Hypertension and RAS Inverse situation like postural hypotension in patient with cervical cord compression (C2-C3) and selective damage of the descending autonomic fibers[ispub.com]

  • Familial Visceral Myopathy

    External ophthalmoplegia associated with deafness may suggest a mitochondrial defect, namely, mitochondrial neurogastrointestinal encephalopathy (MNGIE).[abdominalkey.com] Cleft palate Microcephaly Round face Broad forehead Micrognathia Low-set, posteriorly rotated ears Prominent nasal bridge Anteverted nares Narrow chest Hyperparathyroidism Arachnodactyly[familydiagnosis.com] […] cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - High nasal bridge - Hyperparathyroidy - Long hand / arachnodactyly[csbg.cnb.csic.es]

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