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1,345 Possible Causes for Bilateral Clinodactyly, Dysmorphic Face, Urine Hyaluronic Acid Increased

  • Pierre Robin Syndrome

    A nine day old boy who had the Pierre Robin syndrome also had an unusual associated hand malformation consisting of bilateral clinodactyly of the index finger.[] Because growth is altered in the mandible but may not be altered in other parts of the face, a dysmorphism of the features may progress and become more prominent with age[]

    Missing: Urine Hyaluronic Acid Increased
  • Ruijs Aalfs Syndrome

    In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus[]

    Missing: Dysmorphic Face
  • Mohr Syndrome

    bilateral polysyndactyly of the big toe; by cranial, facial, lingual, palatal, and mandibular anomalies; and by episodic neuromuscular disturbances.[] Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip.[] A clinical diagnosis of OFD1 was made, based on the characteristic dysmorphic features of the mouth, face and limbs.[]

    Missing: Urine Hyaluronic Acid Increased
  • Russell-Silver Syndrome

    clinodactyly.[] […] and further dysmorphisms.[] The photographs show how development of a rounder face in females and jaw growth in males lessens the dysmorphic features with age.[]

    Missing: Urine Hyaluronic Acid Increased
  • Bloom Syndrome

    […] of her bilateral fifth fingers.[] , and "typical" erythematous sun-sensitive skin lesions of the face.[] Characteristic findings on physical examination The hallmark physical features are proportionate dwarfism, facial dysmorphisms including narrow face, small mandible, prominent[]

    Missing: Urine Hyaluronic Acid Increased
  • 3M Syndrome Type 1

    They all showed numerous dysmorphisms, such as triangular face with prominent forehead, large eyes, depressed nasal bridge, thin upper lip, short neck, and bilateral clinodactyly[] The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency.[] Figure 1: Bilateral short incurved 5th finger clinodactyly and unilateral hand hypoplasia Case Presentation A five years old girl admitted to hospital with the complaint of[]

    Missing: Urine Hyaluronic Acid Increased
  • Cleidocranial Dysplasia

    X-ray left wrist AP view revealed normal bone age commensurate with her chronological age and confirmed bilateral clinodactyly, (Fig. 2).[] The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[] Other features which were present in this case included hypoplastic 2 nd and 5 th middle phalanx with bilateral clinodactyly, (Fig. 2).[]

    Missing: Urine Hyaluronic Acid Increased
  • Mulibrey Nanism Syndrome

    […] fifth finger clinodactyly.[] : Dysmorphic Muscle weakness Treatment: Avoid fasting longer than 12 hours Laboratory Acute metabolic acidosis Ethylmalonate excretion: High SCAD deficiency: Generalized No[] The fact that patients with MUL and SRS both are gracile with similar facial dysmorphism makes SRS the most important differential diagnosis.[]

    Missing: Urine Hyaluronic Acid Increased
  • Pseudohypoparathyroidism

    Calcium deposits were identified bilaterally by cranial computed tomography (CT) in frontal subcortical nuclei.[] Hand radiographs showed mild clinodactyly of both fifth fingers ( Fig. 1, C and D) and shortening of fourth metacarpals ( Table 1 ).[]

    Missing: Urine Hyaluronic Acid Increased
  • Smith Lemli Opitz Syndrome

    He also had two-to-three toe syndactyly bilaterally ( Figure 2 ) and curving of the little finger toward the fourth finger (clinodactyly) bilaterally.[] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[] Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly[]

    Missing: Urine Hyaluronic Acid Increased