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313 Possible Causes for Cognitive Developmental Delay, short, Upturned Nose

  • Costello Syndrome

    […] facial dysmorphia, hyperpigmented skin, palmar and plantar hyperkeratosis, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), short[ncbi.nlm.nih.gov] Hypotonia and developmental delay are typical in infancy, and mental retardation can be diagnosed in older patients.[ncbi.nlm.nih.gov] Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P 0.001).[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 2

    Patients with a SYNGAP1 mutation have a developmental delay, cognitive regression and some patients have a autism.[molgen.ua.ac.be] […] and Short palm that can help you solving undiagnosed cases.[mendelian.co] developmental delay and intellectual disability.[ncbi.nlm.nih.gov]

  • Aarskog Syndrome

    5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short nose Decreased length of nose Shortened[rarediseases.info.nih.gov] […] and developmental delays.[healthline.com] Disability Craniofacial Disorders Cystic Fibrosis Deaf-Blind Deaf/Hard of Hearing Developmental Delays/Disability Diabetes Down Syndrome Dual Diagnosis Dyslexia Dyspraxia[aboutspecialkids.org]

  • Weissenbacher-Zweymuller Syndrome

    delays, was followed from birth to eight years.[ncbi.nlm.nih.gov] […] upper portion of limb 0008905 Short femur Short thighbone 0003097 Submucous cleft soft palate 0011819 Showing of 17 Last updated: 6/1/2019 Making a diagnosis for a genetic[rarediseases.info.nih.gov] Cleft palate, small mandible, mid-facial hypoplasia and small upturned nose are also common findings. read more[ctgt.net]

  • Pallister-Killian Syndrome

    Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net] Development/cognition : Developmental delay and learning difficulties. Often severe. Nervous system : Neuronal migration defects, seizures.[genetics4medics.com] The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short[ashg.org]

  • Robinow Syndrome

    We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face.[ncbi.nlm.nih.gov] Developmental assessment every three months in infancy and every six months to one year thereafter, or more frequently as needed if cognitive delays are identified.[ncbi.nlm.nih.gov] All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1H

    However, its prevalence and optimal management is not yet clear because of the rarity of the disease and the prior short life span of these patients.[ncbi.nlm.nih.gov] Hurler syndrome symtoms include developmental delay and cognitive decline; characteristic coarse facial features; joint stiffness and contractures; short stature; and, respiratory[oncofertility.northwestern.edu] nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[orpha.net]

  • Williams Syndrome

    A short-term longitudinal single case study was carried out spanning 10 months.[ncbi.nlm.nih.gov] Clinically it consists of multiple cardiovascular and craniofacial structural abnormalities as well as developmental delay, specific cognitive difficulties, and a characteristic[ncbi.nlm.nih.gov] nose Long ridges in the skin that run from the nose to the upper lip (philtrum) Prominent lips with an open mouth Skin that covers the inner corner of the eye ( epicanthal[web.archive.org]

  • Agenesis of the Corpus Callosum and Congenital Lymphedema

    Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010 ).[mendelian.co] In this study, we report a 2-year-2-month-old boy with global developmental delay, cognitive impairment, multiple congenital anomalies and behavior problems who carried a[molecularcytogenetics.biomedcentral.com] This gives the appearance of an upturned nose (upturned nasal tip).[ncbi.nlm.nih.gov]

  • Chromosome 17p13.1 Deletion Syndrome

    […] chin Decreased height of chin Short lower third of face [ more ] 0000331 Short foot Short feet Small feet [ more ] 0001773 Short neck Decreased length of neck 0000470 Short[rarediseases.info.nih.gov] Related phenotypes are webbed neck and short neck[malacards.org] The children have distinctive facial features with a short upturned nose, thickened upper lip with a thin vermillion upper border, frontal bossing, small jaw, low-set posteriorly[epilepsydiagnosis.org]

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