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3,125 Possible Causes for Hypertelorism, Psychiatric Manifestation, Relative Macrocephaly in Childhood

  • Autism

    CRS may lead to new physical symptoms during adolescence or adulthood, referred to as "late manifestations".[ncbi.nlm.nih.gov] Brain Overgrowth and Macrocephaly The findings of early postnatal brain “overgrowth” in ASD followed by normalization or relative growth arrest in childhood are intriguing[ncbi.nlm.nih.gov] In addition, one should keep in mind the subjectivity regarding the validity of certain Waldrop items (for example, hair quality, hypertelorism, clinodactyly).[doi.org]

  • Malpuech Syndrome

    Long-term follow-up revealed psychiatric manifestations starting at young age.[ncbi.nlm.nih.gov] Malpuech syndrome shows IUGR, hypertelorism, cleft lip and palate, micropenis, hypospadias, renal anomalies, and caudal appendage. All are autosomal recessive.[ncbi.nlm.nih.gov] Psychiatric manifestations that have been reported with the syndrome include psychotic behavior, obsessive–compulsive disorder, loss of inhibition, hyperactivity, aggression[en.wikipedia.org]

    Missing: Relative Macrocephaly in Childhood
  • Mental Retardation

    Diagnostic methods The diagnosis is based on the presence of the clinical manifestations. There is no specific diagnostic test available.[ojrd.biomedcentral.com] […] revealed several common major characteristics including significant developmental delay, epilepsy, neuro-behavioural disorders and recognizable facial features including hypertelorism[ncbi.nlm.nih.gov] Additional findings may include an unusually prominent forehead (frontal bossing), widely spaced eyes (ocular hypertelorism), downwardly slanting eyelid folds (palpebral fissures[rarediseases.org]

    Missing: Relative Macrocephaly in Childhood
  • Legius Syndrome

    Other studies showed that these duplications can manifest with dysmorphic features without a recognizable pattern, microcephaly, congenital anomalies (including torticollis[healthdocbox.com] The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[ncbi.nlm.nih.gov] Individuals with Legius syndrome typically have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism[diseaseinfosearch.org]

  • Hypertensive Encephalopathy

    Delirium manifests clinically as a wide range of neural and psychiatric abnormalities. Obtaining a[…] [symptoma.com] Signup for free for more results[de.dict.md] […] hyperpyrexia 超高熱 hypersegmentation 過分葉/過分節 hypersensitivity pneumonia 過敏性肺炎 hypersensitivity pneumonitis 過敏性肺臓炎 hypersensitivity reaction 過敏性反応 hypersplenism 脾機能亢進症/脾機能亢進 hypertelorism[jpeds.or.jp] HIV encephalopathy ( HIV-related encephalopathy ) a progressive primary encephalopathy caused by infection with human immunodeficiency virus type I, manifested by a variety[medical-dictionary.thefreedictionary.com]

    Missing: Relative Macrocephaly in Childhood
  • Multiple Sclerosis

    Psychiatric manifestations of multiple sclerosis: A review. Can J Psychiatry 1996 ; 41: 441 – 445. Google Scholar SAGE Journals ISI 5. Patten, SB, Svenson, LW, Metz, LM.[dx.doi.org] Additionally, he had hypertelorism, a wide forehead and flattening of mid-face.[ncbi.nlm.nih.gov] Fatigue and psychiatric symptoms, such as depression or euphoria, can also be manifestations of MS. Symptoms (attacks) of MS need disseminated in “time and space.”[clinicaladvisor.com]

    Missing: Relative Macrocephaly in Childhood
  • Gorlin Syndrome

    […] with NBCCS childhood medulloblastoma macrocephaly (occipital frontal circumference 97th centile) cleft lip/palate vertebral/rib anomalies preaxial or postaxial polydactyly[invitae.com] Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding[ncbi.nlm.nih.gov] […] to have the syndrome. multiple basal cell carcinomas, often at puberty and in adolescence craniofacial anomalies odontogenic keratocysts, often multiple frontal bossing hypertelorism[radiopaedia.org]

    Missing: Psychiatric Manifestation
  • Mucopolysaccharidosis

    Inborn errors of metabolism (IEMs) that manifest primarily as psychiatric and behavioural symptoms in childhood are often mistaken for idiopathic primary psychiatric disorders[ncbi.nlm.nih.gov] In early adulthood, however, they manifested a rapid cognitive decline. Subsequent cranial MRI imaging revealed progressive brain iron accumulation in deep brain nuclei.[ncbi.nlm.nih.gov] To illustrate this, we describe two siblings who presented with behavioural issues and mild learning disabilities in childhood, and were consequently given multiple psychiatric[ncbi.nlm.nih.gov]

    Missing: Relative Macrocephaly in Childhood
  • Neurofibromatosis Type 1

    The number of café au lait macules increases with age in childhood, similar to what is observed in NF1 [Author, personal observation]. Macrocephaly.[web.archive.org] […] frequent than in NF1) Multiple café-au-lait spots (an autosomal dominant trait without other features of neurofibromatosis) LEOPARD syndrome (multiple lentigines, ocular hypertelorism[en.wikibooks.org] NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.[genome.ucsc.edu]

    Missing: Psychiatric Manifestation
  • Pallister W Syndrome

    manifestations]; Autistic features (in 1 family) LABORATORY ABNORMALITIES: Increased serum lactate dehydrogenase (in 1 family); Increased serum creatine kinase (1 family)[findzebra.com] […] nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1) 376.41 Hypertelorism[genedx.com] He had hypertelorism, bilateral telecanthus, and bilateral lower Hd entropion.[healio.com]

    Missing: Relative Macrocephaly in Childhood

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