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47 Possible Causes for Microcephaly (2-3 SD), Skeletal Dysplasia

Did you mean: Microcephaly (2-3 SD, Skeletal Dysplasia

  • Microcephaly

    dysplasia, and neonatal lethality.[ncbi.nlm.nih.gov] […] those with milder microcephaly (-2 to -3 SD; approximately 40%).[ncbi.nlm.nih.gov] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3 .[centogene.com]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease[ncbi.nlm.nih.gov] He started walking at 3 years, speaking with single words at 2 years, and he cannot make sentences yet.[jcrpe.org] dysplasia, short stature, and neurologic abnormalities.[cags.org.ae]

  • Sclerosteosis Type 2

    The authors also have had available data from the University of Cape Town Skeletal Dysplasia Registry.[books.google.com] Poor growth (1 patient), microcephaly (-2 to -3 SD) (in some patients), large fleshy earlobes, hypertelorism, upslanting palpebral fissures, broad nasal bridge and tip, tented[iofbonehealth.org] Comprehensive Skeletal Dysplasias and Disorders Panel Panel By Blueprint Genetics in Finland.[mendelian.co]

  • Oculo-Palato-Cerebral Syndrome

    […] stature-valvular heart disease-characteristic facies syndrome Short stature-webbed neck-heart disease syndrome Short stature-wormian bones-dextrocardia syndrome Short-limb skeletal[se-atlas.de] 3) Short Stature (SD) Upperllower segment ratio (SD) Small Hands (SD) Small Feet (SD) Midline Cleft Palate Large pointed ears Undescended testes Microphthalmos Secondary[myslide.es] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebro-oculo-facio-skeletal syndrome Cerebrofacial dysplasia Child syndrome Chimera Chronic infantile neurological[emedcodes.com]

  • Autosomal Dominant Mental Retardation Type 21

    (OMIM phenotype number #101800 ) Acrodysostosis comprises a heterogeneous group of rare skeletal dysplasia that share characteristic features, such as severe brachydactyly[iofbonehealth.org] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] Intellectual disability and rhizomelic skeletal dysplasia is present in some affected individuals. {ECO:0000269 PubMed:24906020}.[genecards.org]

  • Pseudo-Zellweger Syndrome

    dysplasia, Torrance type platyspondylic lethal skeletal dysplasia, Torrance type platyspondylic skeletal dysplasia, Torrance type , see platyspondylic lethal skeletal dysplasia[herenciageneticayenfermedad.blogspot.com] PATHOLOGY AND GENETICS OF MCDs Microcephaly Microcephaly, defined as a head circumference 2-3 SD below the mean, is a condition most frequently associated with subnormal intelligence[neuropathology-web.org] Primary bone dysplasia with decreased bone density Primary bone dysplasia with defective bone mineralization Primary bone dysplasia with disorganized development of skeletal[se-atlas.de]

  • Malpuech Syndrome

    22q11.2 deletion syndrome Thanatophoric dysplasia type 2 Familial partial lipodystrophy Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia[checkrare.com] Three sibs in 1 family had postnatal microcephaly (-2 to -3 SD).[findzebra.com] Dysplasia Syndrome Mental Retardation-Facial Anomalies-Hypopituitarism-Distal Arthrogryposis Syndrome Mental Retardation-Gynecomastia-Obesity Syndrome Mental Retardation-Hearing[neo-genetics.com]

  • Amish Lethal Microcephaly

    dysplasia syndrome Epiphyseal dysplasia, microcephalus, nystagmus syndrome Feingold syndrome Fetal microcephaly Galloway Mowat syndrome Goldberg Shprintzen megacolon syndrome[icdlist.com] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] Proportional microcephaly occurs when the head circumference is 23 SD below the mean in addition to height and weight being at similar percentiles.[mdpi.com]

  • Carrington Syndrome

    dysplasia), especially in the hands and feet.[rarediseases.org] Microcephaly is defined as an occipitofrontal circumference (OFC) of at least 2 or 3 SDs below population norms for age and sex ( 43 ).[pnas.org] - nd Adrenal cytomegaly nd Intestinal malrotation /- nd Cleft palate /- nd Neoplasia /-_ * * Skeletal anomalies /- nd Lens defect /- nd Key: , observed commonly; /-, less[slideplayer.com]

  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    OMIM : 58 Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic[malacards.org] He started walking at 3 years, speaking with single words at 2 years, and he cannot make sentences yet.[jcrpe.org] OMIM : 57 Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic[malacards.org]

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