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1,259 Possible Causes for Coarse Face, Congenital Hip Dysplasia, Disharmonic Maturation of Phalanges and Carpal Bones

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

    This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.[malacards.org] The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.[disorders.eyes.arizona.edu]

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

    We also studied the development of the hips and spine. Uni- or bilateral hip dysplasia was congenital in some, while it developed throughout childhood in others.[ncbi.nlm.nih.gov] 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]

    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: Coarse Face
  • Spondyloepiphyseal Dysplasia Type Cantú

    Dwarfism tall vertebrae 0 *Dwarfism *Hip Dislocation, Congenital Spine/abnormalities.[reference.md] […] voice Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum thickened clavicles Head And Neck Face: long philtrum round face midface hypoplasia coarse facies Skeletal[malacards.org] Acromesomelic dysplasia Hunter- Thompson type 0 *Dwarfism *Osteochondrodysplasias.[reference.md]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Hypertrichotic Osteochondrodysplasia

    Congenital hip dislocation Preauricular skin tag Clumsiness Omphalocele Renal dysplasia Cortical visual impairment Tall stature Broad thumb Intestinal malrotation Hypoplasia[mendelian.co] However, the degree and extent of facial deformity varies and the judgment of abnormality, such as “triangular” or “coarseface, hypertelorism, “nasal contour” or “short[jle.com] Abstract Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly,[karger.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Fragile X Syndrome

    hip dysplasia Patent Eustacian Tube : chronic otitis media Obesity: subgroup with "Prader-Willi phenotype" of FXS Characteristic phenotype of Fragile X Syndrome.[pedclerk.bsd.uchicago.edu] hip dysplasia and clubfoot.[pediatrics.aappublications.org] […] abnormalities in the brain Macro-orchidism : volume 25mL after puberty with normal testicular function Mitral Valve Prolapse Joint abnormalities: finger laxity, scoliosis, congenital[pedclerk.bsd.uchicago.edu]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Frontometaphyseal Dysplasia

    Dermatitis 100 Corneal Abrasions 104 Cubital Tunnel Syndrome 106 Cuboid Subluxation and Fracture 108 Dentoalveolar Trauma 110 de Quervain Tenosynovitis 114 Developmental Dysplasia[euro-libris.ro] […] of the Hip 116 Diabetes 118 DIP Dislocation 122 Discoid Meniscus 124 Dislocation, Hip, Posterior 126 Distal Clavicular Osteolysis 130 Dupuytren’s Contracture 132 Eating Disorders[euro-libris.ro] Cervical Strains 76 Channelopathies, Long QT, CPVT 80 Claudication 84 Cluster Headache 86 Compartment Syndrome, Anterior 88 Complex Regional Pain Syndrome 90 Concussion 94 Congenital[euro-libris.ro]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Simpson Dysmorphia Syndrome

    […] spine disease Spinocerebellar ataxia 11 Congenital contractural arachnodactyly Microphthalmia syndromic 6 Glucocorticoid-remediable aldosteronism Ectodermal dysplasia, hidrotic[checkrare.com] " face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and mental retardation.[ncbi.nlm.nih.gov] It is characterized by pre- and postnatal overgrowth with macrosomia, distinctive craniofacial features (macrocephaly with coarse face, macroglossia, hypertelorism, dental[orpha.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones