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796 Possible Causes for Coarse Face, Echogenic Kidneys with Thick-Walled Pelvises

  • Costello Syndrome

    Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors.[ncbi.nlm.nih.gov] We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases[ncbi.nlm.nih.gov] Costello syndrome (CS) is a rare multiple congenital anomaly/mental retardation syndrome characterized by coarse face, loose skin and cardiomyopathy.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    ERT in the younger sibling resulted in increased growth, an improved 6-minute walk test, less coarse face, slower progression of cardiac valve disease, and the absence of[ncbi.nlm.nih.gov]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Winchester Syndrome

    The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures[ncbi.nlm.nih.gov] Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes.[malacards.org] […] opacities, gum hypertrophy, and EKG coarse face Main biochemical alterations High ANA, high IL-6, and high IL-1β.[iofbonehealth.org]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Mucopolysaccharidosis 2

    Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com] In both forms, symptoms include: Carpal tunnel syndrome Coarse features of the face Deafness (gets worse over time) Increased hair growth Joint stiffness Large head A physical[medlineplus.gov] The child showed increased subcutaneous tissue in the face that produced a coarse appearance, a feature that is typical of diseases involving the accumulation of partially[consultant360.com]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Autosomal Recessive Pachydermoperiostosis 

    His blood pressure was normal, and his outer appearance seemed to indicate acromegaly since the contour of the jaw was enlarged and long making his face appear coarse.[archivesofrheumatology.org] It is associated with pain, polyarthritis, coarse facial features, “cutis verticis gyrata” (skin wrinkling in the face and scalp), seborrhoea, mild ptosis, hyperhidrosis,[sboportal.org.br] Signs & Symptoms Patients with pachydermoperiostosis typically have coarse facial features with oily, thick, grooving skin on the face.[rarediseases.org]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Coffin-Lowry Syndrome

    Typically, male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, orbital hypertelorism, downslanting palpebral fissures, thick[ncbi.nlm.nih.gov] Furthermore, a coarse face with prominent brow, hypertelorism and thick nasal tissues, can be present.[dx.doi.org] Typically male patients are of short stature and exhibit a characteristic coarse face with a prominent forehead, microcephaly, hypertelorism, downslanting palpebral fissures[dx.doi.org]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Pitt-Hopkins Syndrome

    Cardinal findings in this syndrome are mental retardation, "coarse" face, and an abnormal breathing pattern.[ncbi.nlm.nih.gov] face, a broad nasal bridge and a wide mouth, and hyperventilation attacks.[ncbi.nlm.nih.gov] Journal Ital J Pediatr 36:12 (2010) DOI: 10.1186/1824-7288-36-12 Reference PMID: 9475596 Authors Van Balkom ID, Quartel S, Hennekam RC Title Mental retardation, "coarse" face[genome.jp]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Acromegaly

    KB Athletic type & Acromegaly.png 913 1.219; 987 KB Base of the cranium for a male acromegaly patient (1904).jpg 1.498 1.950; 496 KB Browprotrusion.jpg 1.008 896; 121 KB Coarse[commons.wikimedia.org] KB Athletic type & Acromegaly.png 913 1,219; 987 KB Base of the cranium for a male acromegaly patient (1904).jpg 1,498 1,950; 496 KB Browprotrusion.jpg 1,008 896; 121 KB Coarse[commons.wikimedia.org] KB Athletic type & Acromegaly.png 913 1 219; 987 KB Base of the cranium for a male acromegaly patient (1904).jpg 1 498 1 950; 496 KB Browprotrusion.jpg 1 008 896; 121 KB Coarse[commons.wikimedia.org]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Mucopolysaccharidosis 4

    This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.[genome.jp]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises
  • Mucopolysaccharidosis 1H

    Low nose bridge, flat face, large head Enlarged liver and spleen Diarrhea Breathing difficulties and snoring Child with Hurler syndrome appears normal at birth.[en.wikibooks.org] Progressive coarsening of face is apparent as 8-week-old mice (left) grow to become 52-week-old mice (right).[medgen.genetics.utah.edu] The child's face begins to take on the coarse, typical features of Hurler syndrome.[encyclopedia.com]

    Missing: Echogenic Kidneys with Thick-Walled Pelvises

Further symptoms