combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo...
45 KB (4,208 words) - 02:45, 31 July 2024
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
Microhydranencephaly (redirect from Hydranencephaly and microcephaly)
development characterized by both microcephaly and hydranencephaly. Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges)...
3 KB (255 words) - 21:19, 6 June 2024
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) - 11:36, 23 September 2024
Microphthalmia (redirect from Microcephaly microphthalmos blindness)
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) - 09:44, 18 March 2024
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 (12,114 words) - 11:30, 3 September 2024
ASPM (gene) (redirect from Abnormal spindle-like microcephaly-associated protein)
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
Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome...
10 KB (898 words) - 10:46, 18 April 2024
Mowat–Wilson syndrome (redirect from Mental retardation microcephaly unusual facies)
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
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 (7,593 words) - 10:36, 4 September 2024
Osteogenesis imperfecta (redirect from Osteogenesis imperfecta congenita microcephaly and cataracts)
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) - 15:16, 26 September 2024
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
Pancytopenia (redirect from Microcephaly developmental delay pancytopenia)
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) - 02:22, 3 December 2023
due to ZNF335 deficiency Microcephaly 13, primary, autosomal recessive Microcephaly 16, primary, autosomal recessive Microcephaly 2, primary, autosomal recessive...
14 KB (1,343 words) - 13:07, 21 September 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) - 07:58, 28 May 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
Homo floresiensis (section Microcephaly)
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 (7,567 words) - 14:14, 27 September 2024
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome is a rare autosomal recessive syndromic form of agammaglobulinemia that is...
3 KB (181 words) - 06:32, 15 April 2024
Methylmalonic acidemias (redirect from Methylmalonic aciduria microcephaly cataract)
Methylmalonic acidemias, also called methylmalonic acidurias, are a group of inherited metabolic disorders, that prevent the body from properly breaking...
49 KB (4,433 words) - 18:08, 16 June 2024
origins. The largest number of them live in Poland. It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation...
10 KB (1,004 words) - 18:23, 25 March 2024
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
presentations of the disease usually progress to mental retardation, microcephaly, blindness, and spasticity. Females with residual pyruvate dehydrogenase...
20 KB (2,217 words) - 02:43, 11 October 2023
Diamond-Blackfan anemia 21 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Epilepsy, X-linked 2, with or...
14 KB (1,236 words) - 21:21, 26 September 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
Tsukuhara syndrome, also known as Radioulnar synostosis-microcephaly-scoliosis syndrome is an infrequently occurring genetic skeletal dysplasia which is...
2 KB (133 words) - 04:00, 12 July 2023
is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype". J Med Genet...
13 KB (538 words) - 09:46, 18 March 2024
Cri du chat syndrome (category Syndromes with microcephaly)
which may change over time;[specify] excessive drooling; small head (microcephaly) and jaw (micrognathism); widely-spaced eyes (hypertelorism); skin tags...
10 KB (1,147 words) - 05:10, 12 December 2023
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
Aphalangy-syndactyly-microcephaly syndrome is a very rare limb malformation syndrome which is characterized by agenesis of the distal phalanges (distal...
4 KB (329 words) - 21:09, 10 April 2024