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838 Possible Causes for Hypoplastic Testicle, Nasal Voice, Prominent High Nasal Root

  • Renpenning Syndrome

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

  • Schwartz-Jampel Syndrome

    Other manifestations Small mouth Low-set ears Puckered chin Short neck High-pitched or nasal voice Blepharospasm (sustained, forced closing of the eyelids) Ptosis of the eyelid[forgottendiseases.org] 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] Nearsightedness [ more ] 0000545 Osteoporosis 0000939 Overfolded helix Overfolded ears 0000396 Pectus carinatum Pigeon chest 0000768 Platyspondyly Flattened vertebrae 0000926 Prominent[rarediseases.info.nih.gov]

  • 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: Nasal Voice
  • 2p15-p16.1 Deletion Syndrome

    NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 261349Disease definition2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial[…][malacards.org]

    Missing: Prominent High Nasal Root
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    People with this condition have a high-pitched, nasal voice and some have a narrowing of the voicebox (subglottic stenosis).[ghr.nlm.nih.gov] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal[rarediseases.info.nih.gov] […] speech Nasal voice 0001611 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Reduced[rarediseases.info.nih.gov]

    Missing: Hypoplastic Testicle
  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] speech Nasal voice 0001611 Pectus excavatum Funnel chest 0000767 Prominence of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent[rarediseases.info.nih.gov] […] speech impairment Attention deficit hyperactivity disorder Joint stiffness Trismus Hyperhidrosis Generalized hirsutism Anxiety Splenomegaly Respiratory arrest High pitched voice[mendelian.co] […] of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose[rarediseases.info.nih.gov]

    Missing: Hypoplastic Testicle
  • Cleft Palate

    A 4 1/2-year-old child presented with nasal regurgitation and nasal twang of voice.[ncbi.nlm.nih.gov] Some kids, however, will continue to sound nasal after cleft palate repair, and some may develop a nasal voice later on.[kidshealth.org]

    Missing: Hypoplastic Testicle Prominent High Nasal Root
  • Oculo-Pharyngo-Distal Myopathy

    Eleven of his relatives, over a period of three generations, had ptosis, dysphagia, nasal voice and difficulty in walking.[scinapse.io] […] disease course Weakness Masseter Facial Weakness may be severe Wasting: Orbicularis oris, Malar & Zygomatic muscles Bulbar Dysphagia: Oropharyngeal Dysarthria: Hoarse & Nasal[neuromuscular.wustl.edu] Dysphagia and a hoarse or nasal voice occurred in all patients after a disease duration of up to 2 years.[journals.plos.org]

    Missing: Hypoplastic Testicle Prominent High Nasal Root
  • Cold-Induced Sweating Syndrome Type 1

    Clinical description Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity[orpha.net] Both had additional abnormalities, in clud in g a high-arched palate, nasal voice, depressed nasal bridge, in ability to fully extend the ir elbows, and kyphoscoliosis.[yumpu.com] Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.[genecards.org]

    Missing: Hypoplastic Testicle Prominent High Nasal Root
  • Rigid Spine Syndrome

    […] speech Nasal voice 0001611 Nocturnal hypoventilation 0002877 Nonprogressive 0003680 Reduced vital capacity 0002792 Restrictive deficit on pulmonary function testing 0002111[rarediseases.info.nih.gov] Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly.[ncbi.nlm.nih.gov] There may be mild facial weakness and a high-pitched nasal voice.[clinicalgate.com]

    Missing: Hypoplastic Testicle