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29 Possible Causes for Delayed Acquisition of Motor Skills, Mild Rib Sclerosis, Nasal, High-Pitched Voice

  • Mowat-Wilson Syndrome

    The mental retardation, usually severe, was constant; the delay in the acquisition of motor skills was more variable (table 2).[doi.org] Facial properties include prominent narrow chin, open mouth, cupped ears with protruding lobes, broad nasal bridge with rounded nasal tip, and wide set eyes.[mowatwilson.org] A high pitched voice was a consistent finding, even in those patients who have not had previous laryngeal problems.[jmg.bmj.com] […] bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose[rarediseases.info.nih.gov]

    Missing: Mild Rib Sclerosis
  • Rigid Spine Syndrome

    Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion.[ncbi.nlm.nih.gov] […] speech Nasal voice 0001611 Nocturnal hypoventilation 0002877 Nonprogressive 0003680 Reduced vital capacity 0002792 Restrictive deficit on pulmonary function testing 0002111[rarediseases.info.nih.gov] Respiratory difficulties required him to be on nasal oxygen supplementation.[ncbi.nlm.nih.gov] : nasal, high-pitched voice Clinical features from OMIM: 602771 UMLS symptoms related to Rigid Spine Muscular Dystrophy 1: generalized muscle weakness, facial paresis MGI[malacards.org]

    Missing: Mild Rib Sclerosis
  • Congenital Muscular Dystrophy

    Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion, although[invitae.com] KEYWORDS: Dexmedetomidine; Muscular dystrophy, congenital; Oxygen, high-flow nasal; Pregnancy; Sugammadex[ncbi.nlm.nih.gov] […] the face. (159000) type ib (lgmd1b) synonym: proximal limb-girdle muscular dystrophy type 1b a slowly progressive form of muscular dystrophy differing from lgmd1a by the nasal[icd10data.com] Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion.[ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis
  • Achondroplasia

    […] bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [2] This gene provides instructions[rarediseases.info.nih.gov] Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Clinical examination prior to PSG revealed hypertrophied tonsils in 11/24 patients (45.8%), disturbed nasal breathing in 8/24 patients (33.3), and enlarged cervical lymph[ncbi.nlm.nih.gov] Cranial relatively large cranial vault with small skull base prominent forehead with the depressed nasal bridge narrowed foramen magnum cervico-medullary kink relative elevation[radiopaedia.org]

    Missing: High-Pitched Voice
  • Multicore Myopathy with External Ophthalmoplegia

    These parameters improved on institution of overnight ventilation using a BiPAP pressure support ventilator with face mask or nasal pillows with O2 saturation maintained above[ncbi.nlm.nih.gov] A high-pitched voice and myopathic facial features are common, occasionally associated with a high-arched or cleft palate.[ojrd.biomedcentral.com] She has continued touse nasal ventilation each night at home.[docslide.com.br] 0001376 22 abnormality of the hip bone 60 33 frequent (33%) Frequent (79-30%) HP:0003272 23 protruding ear 60 33 frequent (33%) Frequent (79-30%) HP:0000411 24 prominent nasal[malacards.org]

    Missing: Mild Rib Sclerosis
  • Cole-Carpenter Syndrome

    Therapists facilitate the acquisition of gross motor skills progressively through play, the use of specialist equipment and functional tasks.[dovepress.com] Return to Directory Studies host defense of human mucosal surfaces, with particular emphasis on Staphylococcus aureus nasal carriage, and HIV transmission and pathogenesis[med.ucf.edu] pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Microdontia Decreased width of tooth 0000691 Orbital craniosynostosis 0005472 Osteopenia[rarediseases.info.nih.gov] […] morphology Epicanthus inversus Large fleshy ears Caudal appendage Limited pronation/supination of forearm Prominent coccyx Seizures Epicanthus Wide nasal bridge Upslanted[mendelian.co]

    Missing: Mild Rib Sclerosis
  • Central Core Disease

    On physical examination, she had a high-arched palate, nasal tone vocalization, a positive Gowers' sign, waddling gait, and decreased deep tendon reflexes.[ncbi.nlm.nih.gov] A high-pitched voice and myopathic facial features are common, occasionally associated with a high-arched or cleft palate.[ojrd.biomedcentral.com]

    Missing: Mild Rib Sclerosis
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    […] if extreme obesity is avoided Angelman syndrome Clinical features Delayed mental development and acquisition of motor skills in infants and young children In more than 80%[amboss.com] […] bridge Wide nasal bridge Macrocephaly Anteverted nares Congenital onset Micropenis Oxycephaly Abnormality of the forearm Need help with a diagnosis?[mendelian.co] […] subluxation of lens Homocysteine and methionine measurements, dilated eye examination Klinefelter syndrome (XXY) Delayed puberty; infertility; small, firm testes; gynecomastia; high-pitched[aafp.org] The nasal tip is broad and the nares are anteverted.[mitchmedical.us]

    Missing: Mild Rib Sclerosis
  • Insulin-Like Growth Factor Type 1 Deficiency

    […] patient p12-p24 inverted - Microcephaly, large anterior fontanel - Short stature, psychomotor delay - Hypertelorism, deep-set eyes, down-set ears, bulbous nose tip, broad nasal[ncbi.nlm.nih.gov] These patients also showed high pitched voice and sparse hair.[onlinelibrary.wiley.com] They may also demonstrate truncal obesity, a high pitched voice, and delayed closure of the sutures of the skull, causing delayed closure of the fontanelles.[rarediseases.org] 85 [17] p12-p24 tandem - Microcephaly, brachycephaly, large anterior fontanelle - Short stature - Hypertelorism, antimongoloid slant of eyes, cup-shaped ears, prominent nasal[cyberleninka.org]

    Missing: Mild Rib Sclerosis
  • Autosomal Dominant Mental Retardation Type 21

    Note the facial dysostosis and severe maxilla-nasal hypoplasia. Photograph (c) and radiograph (d) of the left hand.[iofbonehealth.org] There are marked thickening and sclerosis of the skull and whole facial bones. The ribs are also thickened and sclerotic.[iofbonehealth.org] Patients with FHS tend to have an unusually high-pitched voice.[content.sciendo.com] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.medscape.com]

    Missing: Delayed Acquisition of Motor Skills

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