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10 Possible Causes for Psychiatric Manifestation, Relative Macrocephaly in Childhood, Short Stature

  • Autistic Disorder

    CRS may lead to new physical symptoms during adolescence or adulthood, referred to as "late manifestations".[ncbi.nlm.nih.gov] stature.[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]

  • Autosomal Recessive Spastic Paraplegia Type 20

    […] psychological assessment as indicated Developmental assessment / cognitive testing as indicated depending on age and severity Annual assessment of orthopedic manifestations[ncbi.nlm.nih.gov] SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. {ECO:0000269 PubMed:12134148}.[genecards.org] SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature.[mybiosource.com]

  • Legius Syndrome

    Other studies showed that these duplications can manifest with dysmorphic features without a recognizable pattern, microcephaly, congenital anomalies (including torticollis[healthdocbox.com] Other less common manifestations include short stature, macrocephaly, Noonan-like facies, pectus excavatum/carinatum, lipomas, hypopigmented macules, vascular lesions, learning[orpha.net] 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]

  • Fragile X Syndrome

    Fragile X syndrome: psychiatric manifestations, assessment and emerging therapies.[ncbi.nlm.nih.gov] We report on an individual with developmental delays, short stature, skeletal abnormalities, normal pubertal development, expansion of the fragile X triplet repeat, as well[ncbi.nlm.nih.gov] Seizures have been reported in approximately 13% to 18% of affected males and 5% of females with a full mutation, and there may be relative macrocephaly.[pediatrics.aappublications.org]

  • Spastic Paraplegia

    Non-neurological manifestations may include ophthalmological abnormalities (cataracts, retinitis pigmentosa, macular degeneration), and orthopedic abnormalities (scoliosis[orpha.net] Troyer syndrome had been thought to be restricted to the Amish; however, we identified 2 Omani families with HSP, short stature, dysarthria and developmental delay-core features[ncbi.nlm.nih.gov] Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[ncbi.nlm.nih.gov]

  • Opitz-Kaveggia Syndrome

    manifestations Psychopathology and related behavioral abnormalities are typically seen in LFS, and they may be considered in the diagnosis of the disorder. [7] The most common[wikiwand.com] short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com]

  • Kondoh Syndrome

    Psychiatric manifestations including social inhibition or psychosis have been also noticed [ 19 , 20 ]. Dilatation of the cerebral ventricles is common.[ojrd.biomedcentral.com] stature 33 HP:0004322 7 long philtrum 33 HP:0000343 8 intrauterine growth retardation 33 HP:0001511 9 thin upper lip vermilion 33 HP:0000219 10 preaxial hand polydactyly[malacards.org] In group 3, furthermore, the low prevalence of relative macrocephaly at birth appears to be discordant with the high prevalence of prominent forehead during early childhood[journals.plos.org]

  • Pseudohypoparathyroidism Type 1B

    […] disorders have been reported that are associated with hypoparathyroidism in general and with PHP in particular, often with overt clinical manifestations such as complaints[pediatricneurosciences.com] Five of 16 subjects had subclinical hypothyroidism; no subject showed sc ossification or short stature.[ncbi.nlm.nih.gov] Many patients have relatively high birth weight and/or early-onset obesity that persists into childhood and later; relative macrocephaly and tall stature have also been observed[academic.oup.com]

  • X-linked Intellectual Disability Type Raymond

    manifestations.[uniprot.org] […] disability Seizures Global developmental delay Short stature Generalized hypotonia SOURCES: GARD SCTID MESH DOID OMIM NCIT ORPHANET MONDO UMLS More info about CEREBRAL CREATINE[mendelian.co] The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[nature.com]

  • Macrocephaly - Intellectual Disability - Autism Syndrome

    Variation in associated cognitive, neurological, and psychiatric features is extensive.[medicalhomeportal.org] MR, short stature, brachydactyly, minor skeletal and facial anomalies, sleep disturbance, self-injurious behaviors, and other organ system malformations characterize this[misc.medscape.com] Seizures have been reported in approximately 13% to 18% of affected males and 5% of females with a full mutation, and there may be relative macrocephaly.[pediatrics.aappublications.org]

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