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1,843 Possible Causes for Congenital Hip Dysplasia, Corneal Opacity, Disharmonic Maturation of Phalanges and Carpal Bones

  • Mucopolysaccharidosis

    Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.nlm.nih.gov] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd9data.com] Typical symptoms are stiff joints, corneal opacities, carpal tunnel syndrome and mild skeletal changes. Aortic valve disease can be present.[orpha.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 6

    A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior dimension are the main characteristic[unboundmedicine.com] [rarediseases.org] Eyes Corneal Opacity A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior[symptoma.com] Corneal opacities can be detected with slitlamp examination. Restricted joint movement, including claw-hand deformities, appears in the first few years of life.[emedicine.medscape.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Turner Syndrome

    ., horseshoe kidney, duplicated or cleft renal pelvis), autoimmune thyroiditis, celiac disease, congenital hip dysplasia, and scoliosis. 11 Girls with Turner syndrome typically[aafp.org] […] developmental dysplasia of the hip occurs more frequently in girls with Turner syndrome than in the general population. 52, 57 This contributes to the development of arthritis[doi.org] Individuals with Turner syndrome are at especially high risk of developing hypothyroidism, but this rarely occurs before 4 years of age. 58 Orthopedic Problems Congenital[doi.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 2

    Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum.[emedicine.medscape.com] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] Hearing loss [2], corneal opacities [54, 55]. Hepatosplenomegaly, umbilical and inguinal hernias [39, 40].[hindawi.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Seckel Syndrome

    ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges[ncbi.nlm.nih.gov]

    Missing: Corneal Opacity
  • Isolated Congenital Sclerocornea

    hip dislocation Nuclear pulverulent cataract Zonular cataract Pulverulent cataract Reduced bone mineral density Hip dysplasia Abnormality of epiphysis morphology Iridodonesis[mendelian.co] In 1 patient, the corneal opacity spontaneously improved.[odlarmed.com] PETER’S ANOMALY Classification Type I Corneal Opacity Iridocorneal Adhesions Type II Corneal Opacity Iridocorneal Adhesions Lens abnormality Unilateral involvement Frequently[slideshare.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Rieger Syndrome

    Family history included early onset glaucoma in four relatives; congenital hip dysplasia requiring surgery in three; and an atrial septal defect in the affected maternal grandmother[ncbi.nlm.nih.gov] The structural anomalies are associated with glaucoma and corneal opacity which may lead to blindness.[casesjournal.biomedcentral.com] opacity and corectopia.[iovs.arvojournals.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Cerebellotrigeminal Dermal Dysplasia

    Unilateral renal agenesis Autism Delayed cranial suture closure Adducted thumb Aortic regurgitation Cutis laxa Wormian bones Thin skin Triangular face Autistic behavior Hip[mendelian.co] The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities[ncbi.nlm.nih.gov] Other features include craniosynostosis, short stature, hypertelorism, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Keratoconus Posticus Circumscriptus

    Hip Dysplasia Keratoconus Posticus Circumscriptus Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block Noninflammatory Corneal Thinning stable condition[rgd.mcw.edu] ., 3rd MICROPHTHALMOS, CORNEAL OPACITY, MENTAL RETARDATION, AND SPASTIC CEREBRAL PALSY; AN OCULOCEREBRAL SYNDROME.[ncbi.nlm.nih.gov] • Ehlers-Danlos syndrome • Osteogenesis imperfecta • Congenital hip dysplasia • Oculodento digital syndrome • Rieger’s syndrome Atopic dermatitis Down syndrome Ehlers-Danlos[slideshare.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Stuve-Wiedemann Syndrome

    Hip dysplasia with acetabular flattening, congenital hip dislocation, joint contractures, bowing and metaphyseal widening of long bones, osteopenia and limitation of joint[ispub.com] Bilateral corneal opacities were dealt with by means of corneal transplantation performed at the age of 6 years.[smw.ch]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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