Create issue ticket

20 Possible Causes for Cognitive Developmental Delay, Flat Affect, Round Face in Infancy

  • Autism

    developmental delay in the first years of life.[doi.org] Her clinical features included hypotonia and feeding difficulties during infancy, coarse face with notably prominent forehead, prominent eyebrows, broad flat nasal bridge[ncbi.nlm.nih.gov] Your doctor may recommend developmental tests to identify if your child has delays in cognitive, language and social skills, if your child: Doesn't respond with a smile or[mayoclinic.org]

  • Goldberg-Shprintzen Syndrome

    The main skeletal findings in SGS are arachnodactyly, flat feet, pectus deformity, scoliosis and hypermobile joints [ 1 ].[panafrican-med-journal.com] 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] Prevalence of SGS is unknown, and it is difficult to determine the number of affected individuals, because some cases diagnosed as SGS could well be Marfan syndrome or Loeys-Dietz[panafrican-med-journal.com]

  • XXXXY Syndrome

    face in infancy,(Look very much like a cherub) coarse features in older age, hypertelorism, epicanthal folds, prognathism, gynecomastia (rare), congenital heart defects ([web.archive.org] Affected individuals have distinctive facial features that can include widely spaced eyes ( ocular hypertelorism ), outside corners of the eyes that point upward ( upslanting[ghr.nlm.nih.gov] While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and[genetic.org]

  • Pachygyria-Mental Retardation-Seizures

    […] outcome, the term “developmental delay” has been used to characterize the developmental status of children under age three.[aafp.org] With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat.[server1.resourcerepository.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]

  • Optic Atrophy-Intellectual Disability Syndrome

    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] This syndrome is characterized by a wide array of clinical features, the most common of which are: developmental delays, cognitive disabilities, low muscle tone (hypotonia[nri.texaschildrens.org]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    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] Developmental delay, learning challenges and attention deficit disorder Most people with Williams syndrome will have mild to severe learning differences and cognitive challenges[williams-syndrome.org]

  • Char Syndrome

    Other Challenges Children with Dravet syndrome often also face developmental challenges such as autism or autistic-like characteristics, cognitive and/or communication delays[dravetfoundation.org] 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]

  • Wolf-Hirschhorn Syndrome

    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] 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] Global developmental delay and cognitive disabilities of varying degree Patients experience expressive language delays.[emedicine.medscape.com]

  • Congenital Non-Progressive Ataxia

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] 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] , behavioral problems, or developmental delay.[eyewiki.aao.org]

  • Iris Coloboma

    The face is round and flat in infancy.[doi.org] Superficial spreading melanoma 70% of cases; affects ages 30 to 60, especially female in lower legs or trunk, as a flat lesion (radial growth phase) that may be present for[medical-dictionary.thefreedictionary.com] […] impairment Global developmental delay Short stature Microcephaly Scoliosis Hypertelorism Neoplasm Abnormal facial shape Cleft palate Ptosis Low-set ears Anemia Recurrent[mendelian.co]