• Thumbnail for Microcephaly
    combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo...
    46 KB (4,293 words) - 01:56, 7 October 2024
  • Thumbnail for Achalasia microcephaly
    Achalasia microcephaly syndrome is a rare condition whereby achalasia in the oesophagus manifests alongside microcephaly and intellectual disability. This...
    23 KB (2,709 words) - 22:04, 30 January 2024
  • development characterized by both microcephaly and hydranencephaly. Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges)...
    3 KB (255 words) - 15:18, 27 October 2024
  • Thumbnail for Zika fever
    baby developing microcephaly at about 1% when the mother is infected during the first trimester, with the risk of developing microcephaly becoming uncertain...
    129 KB (12,099 words) - 16:49, 2 November 2024
  • is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype". Journal...
    25 KB (2,173 words) - 08:38, 29 October 2024
  • Thumbnail for ASPM (gene)
    associated with autosomal recessive primary microcephaly. "ASPM" is an acronym for "Abnormal Spindle-like, Microcephaly-associated", which reflects its being...
    29 KB (3,703 words) - 21:55, 20 August 2024
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (often referred to by its acronym SPATCCM) is a rare autosomal recessive disease...
    9 KB (786 words) - 14:44, 22 October 2024
  • Thumbnail for Mandibulofacial dysostosis-microcephaly syndrome
    Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome...
    10 KB (895 words) - 16:40, 27 October 2024
  • Thumbnail for Zika virus
    concludes Zika causes microcephaly and other birth defects". CDC. 13 April 2016. Retrieved 14 April 2016. "Zika virus microcephaly and Guillain–Barré syndrome...
    74 KB (7,597 words) - 16:49, 2 November 2024
  • Thumbnail for Amish lethal microcephaly
    Amish lethal microcephaly is a rare genetic disorder which is characterized by severe microcephaly (small head) from birth, brain hypoplasia (underdeveloped...
    5 KB (302 words) - 21:07, 10 April 2024
  • Thumbnail for Pyriproxyfen
    that pyriproxyfen, not the Zika virus, is the cause of the 2015-2016 microcephaly outbreak in Brazil was raised in a report of the Argentinean organization...
    17 KB (1,635 words) - 08:33, 2 November 2024
  • Thumbnail for Mowat–Wilson syndrome
    required diagnostic criterion. Distinctive physical features include microcephaly, narrow chin, cupped ears with uplifted lobes with central depression...
    9 KB (760 words) - 00:03, 27 February 2024
  • Thumbnail for Osteogenesis imperfecta
    Osteogenesis imperfecta (IPA: /ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all...
    150 KB (15,385 words) - 12:29, 2 November 2024
  • Pancytopenia is a medical condition in which there is significant reduction in the number of almost all blood cells (red blood cells, white blood cells...
    8 KB (794 words) - 13:00, 23 October 2024
  • Thumbnail for Micrognathism
    due to ZNF335 deficiency Microcephaly 13, primary, autosomal recessive Microcephaly 16, primary, autosomal recessive Microcephaly 2, primary, autosomal recessive...
    14 KB (1,343 words) - 23:07, 16 October 2024
  • Thumbnail for Homo floresiensis
    with microcephaly. A 2006 study stated that LB1 probably descended from a pygmy population of modern humans, but herself shows signs of microcephaly, and...
    73 KB (7,573 words) - 19:55, 29 October 2024
  • primordial dwarfism Microcephaly Microcephaly Microcephaly a – Microcephaly l Microcephaly albinism digital anomalies syndrome Microcephaly autosomal dominant...
    28 KB (2,469 words) - 04:35, 13 June 2024
  • Thumbnail for Pontocerebellar hypoplasia
    individuals born with PCH have reached adulthood. Mental retardation and microcephaly with pontine and cerebellar hypoplasia Millen KJ, Gleeson JG (February...
    12 KB (938 words) - 14:26, 25 October 2024
  • Thumbnail for Nijmegen breakage syndrome
    origins. The largest number of them live in Poland. It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation...
    9 KB (1,011 words) - 16:38, 26 October 2024
  • Thumbnail for Strømme syndrome
    Strømme syndrome (category Syndromes with microcephaly)
    atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. The intestinal atresia is of the "apple-peel" type, in which the remaining...
    25 KB (2,717 words) - 18:28, 25 March 2024
  • Thumbnail for Methylmalonic acidemias
    Methylmalonic acidemias, also called methylmalonic acidurias, are a group of inherited metabolic disorders, that prevent the body from properly breaking...
    48 KB (4,435 words) - 15:54, 30 October 2024
  • Thumbnail for Mental retardation and microcephaly with pontine and cerebellar hypoplasia
    Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type...
    19 KB (2,043 words) - 02:42, 13 July 2024
  • Thumbnail for Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
    Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome is a rare autosomal recessive syndromic form of agammaglobulinemia that is...
    3 KB (185 words) - 15:04, 19 October 2024
  • Thumbnail for Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
    extrasystoles that weren't associated with syncopal episodes, 2 had microcephaly, the same 2 patients had a low anterior hairline, and the same 2 patients...
    8 KB (835 words) - 15:11, 27 October 2023
  • Thumbnail for Unibrow
    Diamond-Blackfan anemia 21 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Epilepsy, X-linked 2, with or...
    14 KB (1,244 words) - 00:43, 18 October 2024
  • syndrome is an X linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia and absent speech. Onset of symptoms is normally within...
    4 KB (456 words) - 14:16, 24 February 2024
  • Thumbnail for Feingold syndrome
    reported worldwide. Feingold syndrome is marked by various combinations of microcephaly, limb malformations, esophageal and duodenal atresias. Cognition is affected...
    4 KB (324 words) - 18:14, 25 March 2024
  • Mild to severe developmental delay Severely impaired speech Seizures Microcephaly Sparse hair Progressive skin wrinkling Thick, anteverted alae nasi Long...
    6 KB (511 words) - 09:03, 11 January 2023
  • Microcephaly lymphoedema chorioretinal dysplasia also known as lymphedema microcephaly chorioretinopathy syndrome is a rare genetic condition associated...
    4 KB (407 words) - 13:07, 30 June 2023
  • Thumbnail for Trigonocephaly
    Holoprosencephaly Mandibulofacial dysostosis-microcephaly syndrome MEGF8-related Carpenter syndrome Microcephaly, primary autosomal dominant Mucolipidosis...
    35 KB (3,636 words) - 03:36, 30 July 2024