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339 Possible Causes for Hypoplastic Testicle, Mild Blepharophimosis, Prominent High Nasal Root

  • Warburg Micro Syndrome 3

    Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al.,[…][ncbi.nlm.nih.gov]

    Missing: Prominent High Nasal Root
  • Schwartz-Jampel Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov] The authors report on a 10-year-old girl with expressionless face, blepharophimosis, mild thoracic asymmetry, and myotonic electromyographic pattern, but without osteoarticular[ncbi.nlm.nih.gov] Arms and legs mobility was decreased, there were mild bilateral ankle joint contractures and he walked with minimal flexion of knees.[scielo.br]

  • Woodhouse Sakati Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Prominent[rarediseases.info.nih.gov] […] forehead, flattened occiput, triangular face, prominent nasal root, hypertelorism, downward slanting palpebral fissures), scoliosis, hyperreflexia and camptodactyly.[sites.uclouvain.be] […] forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.[rarediseases.info.nih.gov]

    Missing: Mild Blepharophimosis
  • Renpenning Syndrome

    He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org]

    Missing: Mild Blepharophimosis
  • Qazi-Markouizos Syndrome

    Retrognathia Clinodactyly of the 5th finger Respiratory insufficiency Hyposmia Hypogonadotrophic hypogonadism Anosmia Delayed skeletal maturation Mild intrauterine growth[mendelian.co] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Seizures[rarediseases.info.nih.gov] […] retardation Long eyelashes Delayed puberty Talipes equinovarus Growth delay Congenital onset Muscle weakness Myopathy Flexion contracture Pectus excavatum Prominent nasal bridge Blepharophimosis[mendelian.co]

    Missing: Hypoplastic Testicle
  • Hypogonadotropic Hypogonadism Type 22

    Etiology Int J Pediatr Otorhinolaryngol 2018 Jul;110:135-139. Epub 2018 May 17 doi: 10.1016/j.ijporl.2018.05.011. PMID: 29859575 Gonçalves CI, Fonseca F, Borges T, Cunha F, Lemos MC Hum Reprod 2017 Mar 1;32(3):704-711. doi: 10.1093/humrep/dew354. PMID: 28122887 Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R,[…][ncbi.nlm.nih.gov]

    Missing: Mild Blepharophimosis Prominent High Nasal Root
  • Kallmann Syndrome Type 4

    […] doi: 10.1097/01.XHA.0000479441.49042.58 Review articles Abstract Author Information Authors Article Metrics Metrics Delayed, failed, or arrested puberty is the consequence of hypogonadism among adolescent boys. A variety of congenital and acquired conditions that affect the hypothalamus and/or the pituitary gland[…][journals.lww.com]

    Missing: Mild Blepharophimosis Prominent High Nasal Root
  • Hypogonadotropic Hypogonadism Type 8

    OMIM : 57 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic[…][malacards.org]

    Missing: Mild Blepharophimosis Prominent High Nasal Root
  • Brandt Syndrome

    From Wikidata Jump to navigation Jump to search Human disease Acrodermatitis enteropathica, zinc deficiency type Acrodermatitis enteropathica zinc deficiency type Inherited zinc deficiency Danbolt-Cross syndrome ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ Brandt syndrome AE ACRODERMATITIS[…][wikidata.org]

    Missing: Mild Blepharophimosis Prominent High Nasal Root
  • Moebius Syndrome

    Möbius syndrome is a neurological disorder involving underdevelopment of the sixth and seventh cranial nerves. Multiple associations have been described including dysfunction of other cranial nerves, limb abnormalities and hypogonadotrophic hypogonadism causing delayed puberty. We present the second reported case[…][ncbi.nlm.nih.gov]

    Missing: Mild Blepharophimosis Prominent High Nasal Root