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626 Possible Causes for Bilateral Clinodactyly, Congenital Mandibular Hypoplasia, 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.[ncbi.nlm.nih.gov] Most PRS conditions are either micrognathic or retrognathic. [22] In velocardiofacial syndrome, the mandible is retrognathic.[emedicine.com] The glossoptosis and micrognathism generally do not require surgery, as they improve to some extent unaided, though the mandibular arch remains significantly smaller than[en.wikipedia.org]

    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[ncbi.nlm.nih.gov]

    Missing: Congenital Mandibular Hypoplasia
  • Cleidocranial Dysplasia

    X-ray left wrist AP view revealed normal bone age commensurate with her chronological age and confirmed bilateral clinodactyly, (Fig. 2).[omjournal.org] […] and hypoplasia of the proximal phalanx of the big toe, pelvic dysplasia, bilateral hip dislocation, a constant facial dysmorphism with sparse hair, peculiar ears, severe micrognathism[jamanetwork.com] The mandible is prognathic due to hypoplasia of maxilla (micrognathism) and other facial bones.[en.wikipedia.org]

    Missing: Urine Hyaluronic Acid Increased
  • Patau Syndrome

    A mild clinical phenotype is described in a patient with duplication of 13q32-- qter and a small deletion of 18p11.32-- pter. The 8 year old white male presented with psychomotor retardation, tethered cord, soft, fleshy ears, and normal facial features except for thin lips. The karyotype was found to be 46, XY,[…][ncbi.nlm.nih.gov]

    Missing: Bilateral Clinodactyly Urine Hyaluronic Acid Increased
  • Congenital Mandibular Hypoplasia

    mandibular hypoplasia.[ncbi.nlm.nih.gov] Although mandibular hypoplasia is a common craniofacial anomaly, patients manifesting nonsyndromic congenital mandibular hypoplasia are a rare subgroup.[ncbi.nlm.nih.gov] They presented with severe congenital mandibular hypoplasia with obstructive sleep apnoea and difficulty in feeding.[ncbi.nlm.nih.gov]

    Missing: Bilateral Clinodactyly Urine Hyaluronic Acid Increased
  • Stickler Syndrome

    Stickler syndrome may be revealed at birth (25% of cases) by a combination of cleft palate, retrognathism, and micrognathism known as Pierre Robin sequence, which may cause[ncbi.nlm.nih.gov] The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 estimated rate, characterized by the presence of the combination of mandibular[ncbi.nlm.nih.gov] 12.4 per 100,000 live births. [ 5 ] Presentation With the increasing routine use of antenatal ultrasound, diagnosis is frequently before birth - based on identification of micrognathism[patient.info]

    Missing: Bilateral Clinodactyly Urine Hyaluronic Acid Increased
  • Polyarticular Juvenile Idiopathic Arthritis

    BACKGROUND: Our intent was to identify differences between the transcriptome of fibroblast-like synoviocytes (FLS) in oligoarticular juvenile idiopathic arthritis (JIA) before extension when compared to persistent subtype of JIA, when the two are clinically indistinguishable. Additionally, we sought to determine if[…][ncbi.nlm.nih.gov]

    Missing: Bilateral Clinodactyly Urine Hyaluronic Acid Increased
  • Micrognathism

    […] syndrome 6011000124106 MAPRULE IFA 109523003 Congenital horizontal mandibular hypoplasia 6011000124106 MAPTARGET M26.09 6011000124106 MAPADVICE IF DISTAL LIMB DEFICIENCY[purl.bioontology.org] Convert to ICD-10-CM : 524.04 converts directly to: 2015/16 ICD-10-CM M26.04 Mandibular hypoplasia Approximate Synonyms Congenital mandibular hypoplasia Hypoplasia of mandibular[icd9data.com] (disorder) {51780007, SNOMED-CT } Congenital horizontal mandibular hypoplasia (disorder) {109523003, SNOMED-CT } Congenital transverse mandibular hypoplasia (disorder) {109525005[phinvads.cdc.gov]

    Missing: Bilateral Clinodactyly Urine Hyaluronic Acid Increased
  • Ring Chromosome 15

    clinodactyly of the fifth fingers, café-au-lait nevi, mental retardation, and a high level of seurm follicular stimulating hormone.[insights.ovid.com] […] intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism[orpha.net] […] examination revealed brachydactyly, triangular face, and facial dysmorphisms with prominent forehead, hypertelorism, bulbous nasal tip, long philtrum, thin upper lip, and micrognathism[abstracts.eurospe.org]

    Missing: Urine Hyaluronic Acid Increased
  • Seckel Syndrome

    […] retardation. bird-headed dwarfism A popular term for Seckel syndrome, an autosomal recessive condition characterised by growth and mental retardation, a beak-like nose, micrognathism[medical-dictionary.thefreedictionary.com]

    Missing: Bilateral Clinodactyly Urine Hyaluronic Acid Increased

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