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54 Possible Causes for Congenital Clubfoot, Hepatomegaly, Patellar Dislocation

  • Alpha-Mannosidosis

    The disorder has been described as two distinct phenotypes: a severe form with hepatomegaly and early death following severe infections (type 1) and a mild form with hearing[genome.jp] View Article PubMed Google Scholar Hale SS, Bales JG, Rosenzweig S, Daroca P, Bennett JT: Bilateral patellar dislocation associated with alpha-mannosidase deficiency.[ojrd.com] Hepatomegaly is commonly diagnosed. Unfortunately, severely affected children usually succumb to infections during their first years of life.[symptoma.com]

  • Ehlers Danlos Syndrome

    Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome. Pediatr Int. ,60:378-380 2018 Author:Natsume T, Takano K, Motobayashi M, Kosho T.[soar-rd.shinshu-u.ac.jp] Other problems related to the joint hypermobility are joint instability, foot deformities such as congenital clubfoot or pes planus, temporomandibular joint dysfunction, joint[nature.com] […] dislocation of the hips Talipes equinovarus (clubfoot)[web.archive.org]

  • Femoral Agenesis - Femoral Hypoplasia

    […] in the newborn period 516 Hepatomegaly in children General overview 517 Hepatomegaly with portal hypertention and obstructive jaundice 519 Liver calcifications in the pediatric[books.google.de] patellar dislocation during a basketball game.[healio.com] clubfoot 374 345 Other congenital anomalies of the foot 392 Should one treat metatarsus adductus?[books.google.com]

  • Wolcott-Rallison Syndrome

    Hepatic dysfunction is a typical feature of this syndrome presenting with hepatomegaly, elevated hepatic enzymes, and recurrent acute liver failure (4).[jcrpe.org] NO Hypoplasia of the capital femoral epiphysis NO Exercise-induced muscle cramps NO Recurrent patellar dislocation NO Short middle phalanx of finger NO Irregular femoral[playground.phenotips.org] Certain malformations such as clubfoot or cleft palate can be present at birth (congenital). rMED is caused by mutations in the SLC26A2 gene.[rarediseases.org]

  • Intestinal Pseudo-Obstruction - Patent Ductus Arteriosus - Natal Teeth

    The baby looks active, not acutely ill and progressively develops acholic stools, choluria and hepatomegaly.[pongpdf.com] ., 1993), and patellar dislocations (Hennekam et al., 1990b; Moran et al., 1993; Stevens, 1997).[docplayer.net] […] contractural syndrome H00870 Brachydactyly-syndactyly syndrome H00903 Congenital clubfoot H00929 Congenital vertical talus H00979 Caudal regression syndrome and Sirenomelia[genome.jp]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Hepatomegaly and Polyneuropathy, related diseases and genetic[mendelian.co] Bone fractures are common and patellar dislocations can be present as seen in the first two decades of life. Hypotonia is a feature.[disorders.eyes.arizona.edu] Common Musculoskeletal Findings in Young Children, the most commonsevere congenital foot deformity istalipes equinovarus (talipes calca-neovalgus), or clubfoot Finally, most[quizlet.com]

  • Congenital Absence of Both Lower Leg and Foot

    Examination of the systems was normal except for hepatomegaly of 4 cm and vulval edema. Her blood pressure was 60/40 mmHg.[njcponline.com] Patellar subluxation and dislocation - this is a congenital disorder usually treated by immobilisation; surgery is considered if chronic.[patient.info] (Clubfoot).[journals.plos.org]

  • Postaxial Oligodactyly, Tetramelic

    Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present.[mendelian.co] dislocation Abnormality of the ulna Fibular hypoplasia Areflexia Stiff shoulders Chess-pawn distal phalanges Chronic pain Symphalangism affecting the phalanges of the hallux[mendelian.co] , congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800 AD Preaxial polydactyly, equinovarus deformity Mesomelic dysplasia, Savarirayan[docksci.com]

  • Metaphyseal Acroscyphodysplasia

    肝細胞性黄疸】 *hepatocholangiocarcinoma【胆管肝癌】 *hepatocholangitis【肝胆管炎】 *hepatocirrhosis【肝硬変症】 *hepatodynia【肝臓痛】(hepatalgia) *hepatojugular reflux【肝頚静脈逆流】 *hepatolithiasis【肝内結石症】 *hepatomegaly[medo.jp] Say Field Coldwell syndrome 0 *Abnormalities, Multiple *Hand Deformities, Congenital *Patellar Dislocation/congenital Thumb/abnormalities.[reference.md] dislocation, and intellectualFindings of Patients With Acrosyphodysplasias Endocrine features Radiological features Genotypeits,cationy,nt,PTH resistance, TSHresistanceSevere[docslide.us]

  • Facioauriculoradial Dysplasia

    […] infancy Dysphasia Vomiting Lymphadenopathy Hepatosplenomegaly Hypogonadism Agenesis of corpus callosum Pneumonia Immunodeficiency Splenomegaly Edema Retinal dystrophy Fatigue Hepatomegaly[mendelian.co] […] radial head Metacarpophalangeal synostosis Patellar dislocation Wide nasal bridge Short nose Narrow mouth Proptosis High forehead Genu valgum Flat face Joint dislocation[mendelian.co] , congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800 AD Preaxial polydactyly, equinovarus deformity Mesomelic dysplasia, Savarirayan[docksci.com]

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