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1,719 Possible Causes for Microcephaly, Polydactyly

  • Meckel-Gruber Syndrome

    Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, polydactyly, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the[] The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly.[] Microcephaly, sloping forehead, posterior occipital exencephalocele, cerebellar hypoplasia, Chiari malformation, hydrocephalus, polymicrogyria, arhinencephaly, holoprosencephaly[]

  • Patau Syndrome

    Some of these features include: a small head size (microcephaly), small eyes (microphthalmia), cleft lip/palate, and variations in ear shape.[] Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[] Microcephaly (my-kroh-SEHF-uh-lee) - Microcephaly is a neurological condition in which the circumference of an infant's head is significantly smaller than the heads of other[]

  • West Syndrome

    A mutation in ARFGEF2 has been previously described only once, causing microcephaly and periventricular heterotopia.[] […] which is characterized by several facial dysmorphisms, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial polydactyly[] The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs.[]

  • Growth Hormone Deficiency

    […] characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly[] The particularity of reported case consists of association empty sella with GH deficiency and polydactyly.[] […] to intracranial lesions (anosmia or visual deficits) are findings that require exclusion of GHD as the underlying cause, while neonatal signs include prolonged jaundice, microcephaly[]

  • Syndactyly

    […] tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy-Walker malformation, microcephaly[] A large Jewish Moroccan family presented with apparently autosomal dominant heredity of bilateral thumb polydactyly in hands and feet combined with post-axial polydactyly[] Microcephaly can be striking at birth but there is overall intrauterine growth retardation.[]

  • Beckwith-Wiedemann Syndrome

    Combs, et al: A new syndrome of neonatal hypoglycemia association with visceromegaly, microcephaly and abnormal umbilicus.[] Polydactyly, genital abnormalities, extra nipple, and cleft palate are more frequently observed in BWS with mutations in CDKN1C.[] Directed toward the specific symptoms that are apparent in each individual Clinical images Images hosted on other servers: Anterior linear crease Posterior helical ear pits Polydactyly[]

  • Rubinstein-Taybi Syndrome

    Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly[] Although various malformations are combined with the triad, polydactyly is rare. We treated a male patient with RTS complicated by postaxial polydactyly of the foot.[] RSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe.[]

  • Trigonocephaly

    Almost all the symptoms of the patient, including polymicrogyria, microcephaly, facial abnormalities, internal anomalies, seizures, and mental retardation, were compatible[] He has frontal bossing, ridged metopic suture, bilateral ptosis, right squint, depressed nasal bridge, small nose, anteverted nostrils, lobulated tongue, polydactyly of both[] His father had mild microcephaly, and both had minor eye abnormalities. None of the other four affected individuals had any other malformations.[]

  • Interstitial Keratitis

    CRAMP C-CLEFT LIP/PALATE R-RENAL ABNORMALITIES A-cArdiac defects M-MENTAL RETARDATION -MICROCEPHALY P-POLYDACTYLY First Generation Cephahlosporins - Remember this story: Mr[] CRAMP C-CLEFT LIP/PALATE R-RENAL ABNORMALITIES A-cArdiac defects M-MENTAL RETARDATION -MICROCEPHALY P-POLYDACTYLY First Generation Cephahlosporins - Remember this story: Mr[]

  • Polysyndactyly

    Homozygous and compound heterozygous mutations in KATNB1 have very recently been described as a cause of microcephaly with brain malformations and seizures.[] Pre-axial polydactyly has been associated with Holt-Oram syndrome, short ribs–polydactyly syndromes, Carpenter syndrome, trisomy 21, VACTERL, and Fanconi anemia .[] Crossed polydactyly was noted i.e. postaxial polydactyly in his hands and preaxial polysyndactyly of feet.[]

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