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1,547 Possible Causes for Congenital Hip Dysplasia, Disharmonic Maturation of Phalanges and Carpal Bones, Dysmorphic Face

  • 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] face (bird-like), and mild to severe intellectual disability.[orpha.net] A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult. [11] Dental malocclusion, receding chin, high palatal arch could[joacp.org]

  • 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

    Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and[…][ncbi.nlm.nih.gov]

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

    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
  • Mucopolysaccharidosis 2

    Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21. Author information 1 Medical Genetics Service, Hospital de Clinicas, Porto Alegre, RS, Brazil. Abstract Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficit of the enzyme[…][ncbi.nlm.nih.gov]

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

    Congenital malformations including congenital heart defects, radioulnar synostosis, cleft palate (submucosal or occult), hip dysplasia, kidney dysplasia, clubfoot and inguinal[ncbi.nlm.nih.gov] […] elbow dislocation Congenital hip dysplasia Pes planus/Flat feet Clubfoot Inguinal hernia/Undescended testicles Deep vein thrombosis/Pulmonary embolism Hypothyroidism Type[ncbi.nlm.nih.gov] Radioulnar synostosis, Hip dysplasia, Genitourinary malformations, Cleft palate, Inguinal hernia, Clubfoot, Cardiac) ( 7, 9, 10 ) Hypergonadotropic hypogonadism Yes Yes Yes[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Schwartz-Jampel Syndrome

    Our patient, diagnosed at 4 weeks of life, lacks the major skeletal anomalies, such as pectus carinatum, congenital hip dysplasia, and bowing of the long bones usually associated[ncbi.nlm.nih.gov] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] Hip dysplasia with acetabular flattening, congenital hip dislocation, joint contractures, bowing and metaphyseal widening of long bones, osteopenia and limitation of joint[ispub.com]

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

    Symptoms in infancy can include low muscle tone, congenital hip dysplasia, and delayed speech and walking.[essentialkids.com.au]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Congenital Hip Dysplasia

    Congenital hip dysplasia describes a medical condition characterized by an abnormal development of the hip joint. Congenital hip dysplasia is frequently asymptomatic.[symptoma.com] A one month old boy presented with failure to thrive, jaundice, ventricular septal defect (VSD) and dysmorphic face. He displayed symptoms of heart failure.[ncbi.nlm.nih.gov] The most reliable sign for the diagnosis of congenital hip dysplasia at birth is the "click" sign.[ncbi.nlm.nih.gov]

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

    Hip dysplasia (human) Classification and external resources Congenital dislocation of the left hip in an elderly person.[medicine.academic.ru] The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[ncbi.nlm.nih.gov] Wagner H: Femoral osteotomies for congenital hip dislocation, in Acetabular Dysplasia: Skeletal Dysplasias in Childhood. Heidelberg. NY. Springer- Verlag Publishers.[healio.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones