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26 Possible Causes for Flat Affect, Round Face in Infancy, Skeletal Dysplasia

  • Wolf-Hirschhorn Syndrome

    Dysplasia Society , Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] Most individuals affected by this disorder have distinctive facial features, such as a broad, flat nasal bridge and a high forehead described as the “Greek warrior helmet”[medcraveonline.com] Microcephaly Round, moonlike face Wide-set, downward-slanting eyes Strabismus Epicanthal folds Williams syndrome Type of abnormality: deletion Critical region: 7q11.23 Mental[alpfmedical.info]

  • Cole-Carpenter Syndrome

    dysplasias.[books.google.com] Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[mendelian.co] An individual affected by the syndrome may have broad cheeks, a flat nasal bridge, and a wide upturned nose with abnormally large nasal openings.[en.wikipedia.org]

  • Weaver Syndrome

    Key words Weaver Syndrome Accelerated skeletal maturation Bone dysplasia Congenital malformation This is a preview of subscription content, log in to check access.[link.springer.com] Although both sexes are affected, the sex ratio is 2M:1F.[atlasgeneticsoncology.org] Dysplasias and Disorders Panel method(s): Del/Dup (CNV) Sequencing, Next Gen Blueprint Genetics, San Francisco - San Francisco, CA, USA TAT : 2-4 weeks price : contact lab[genetests.org]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    dysplasia Neck webbing Noonan syndrome-like disorder with loose anagen hair Noonan's syndrome Oliver McFarlane syndrome Osteodysplastic primordial dwarfism Osteodysplastic[icdlist.com] 50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round[circ.ahajournals.org] Symptoms and Signs Affected neonates tend to be placid, rarely cry, and have hypotonia.[merckmanuals.com]

  • Goldberg-Shprintzen Syndrome

    Individuals with the syndrome exhibit ocular (ptosis, hyperopia, or megalocornea), cardiac, urogenital (vesicoureteral reflux, multicystic renal dysplasia), and skeletal ([en.wikipedia.org] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] The main skeletal findings in SGS are arachnodactyly, flat feet, pectus deformity, scoliosis and hypermobile joints [ 1 ].[panafrican-med-journal.com]

  • Spondyloepimetaphyseal Dysplasia Type Geneviève

    , Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification[malacards.org] In some cases, affected individuals also have an abnormally flat face, underdevelopment of the cheek bone (malar hypoplasia), and/or incomplete closure of the roof of the[rarediseases.org] face Ataxia Nevus Thickened skin Ventriculomegaly Hydrocephalus Behavioral abnormality EEG abnormality Sporadic Mental deterioration Acrania Death in infancy Abnormality[mendelian.co]

  • Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome

    You are donating to research for a rare disease: ' Lethal occipital encephalocele-skeletal dysplasia syndrome '.[react-community.org] Gene Role Disease OMIM Descriptions Sources COL11A1 causing MRSHS 154780 The disease is caused by mutations affecting the gene represented in this entry.[nectarmutation.org] face Apraxia Abnormal pattern of respiration Optic nerve coloboma Cholestatic liver disease Neoplasm of the liver Congenital hepatic fibrosis Pathologic fracture Meningocele[mendelian.co]

  • Optic Atrophy-Intellectual Disability Syndrome

    dysplasia-epilepsy-short stature syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Sodium channelopathy-related small fiber neuropathy Solitary median maxillary[se-atlas.de] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Most affected individuals have facial features described as coarse.[nfed.org]

  • Char Syndrome

    Dysplasia Society , Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] A, Typical facial features of Char syndrome in an affected 46-year-old woman from the Arkansas family.[ahajournals.org] Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears. Child with cri-du-chat syndrome.[emedicine.medscape.com]

  • Congenital Non-Progressive Ataxia

    dysplasia-epilepsy-short stature syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Sodium channelopathy-related small fiber neuropathy Solitary median maxillary[se-atlas.de] For example, affected individuals have exhibited skeletal malformations, such as fusion of certain bones in the spinal column of the neck (cervical vertebrae), flat feet ([rarediseases.org] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu]

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