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15 Possible Causes for Agenesis or Hypoplasia of the Corpus Callosum, Short Neck, Wide Space Between the First and Second Toe

  • Craniofrontonasal Dysplasia

    neck Short stature Split nail Telecanthus Toe syndactyly Umbilical hernia Unilateral breast hypoplasia Wide nasal bridge Widow's peak X-linked dominant inheritance Last updated[familydiagnosis.com] callosum hypoplasia or agenesis, and developmental delay but without severe mental deficiency.[karger.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Dubowitz Syndrome

    The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.[cafamily.org.uk] callosum agenesis-intellectual disability syndrome Spinocerebellar ataxia 15 MAN1B1-CDG Ichthyosis cheek eyebrow syndrome Wolf-Hirschhorn syndrome Intellectual disability[checkrare.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Greenberg Dysplasia

    Polyhydramnios and hydrops fetalis were found as well as severe short limb, short stature, and cystic hygroma of the neck.[doi.org] […] of the corpus callosum with peripheral neuropathy (Andermann syndrome) SRPX2 Rolandic epilepsy, mental retardation, and speech dyspraxia TMEM5 Muscular dystrophy-dystroglycanopathy[genda.com.ar] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

  • Adactyly of Foot

    Additional unusual features were short neck and torticollis.[ojrd.biomedcentral.com] High, narrow palate Brachydactyly Fair hair Downslanted palpebral fissures Hemivertebrae Protruding ear Specific learning disability Agenesis of corpus callosum Microphthalmia[mendelian.co] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com]

  • Cutis Laxa

    neck and diastase of the abdominal muscles.[scielo.br] Brain malformations include corpus callosum hypoplasia or agenesis, and polymicrogyria.[cmgg.be] From a critical point of view, we noticed that the correction was not optimal in the neck and submental area, and we have recommended further surgery focused on that area.[clinmedjournals.org]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] nose; Upturned nasal tip; [Mouth]; Large, carp-shaped mouth; [Neck]; Short neck CARDIOVASCULAR: [Heart]; Ventricular septal defect; Atrial septal defect RESPIRATORY: Frequent[genome.jp] callosum agenesis-abnormal genitalia syndrome Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom Microcephaly-corpus[orpha.net] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Meningomyelocele

    A dysplastic neural placode [Figure 1] was seen at the neck of the myelomeningocele sac and the cord showed a short segment syrinx [Figure 1] at the same level.[neurologyindia.com] Idiom comprehension deficits in relation to corpus callosum agenesis and hypoplasia in children with spina bifida meningomyelocele .[cambridge.org] space between first and second toes 11. ability to assume unusual positions Intracranial hemorrhage interventions 1. observation of increased intracranial pressure 2. head[quizlet.com]

  • Genee-Wiedemann Syndrome

    The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ( Tracy[mendelian.co] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com] neck, and increased adipose tissue [ 20 ].[radiologykey.com]

  • Trisomy 10p

    Although the translocation also results in monosomy for Xq21-qter, she does not have any major stigmata of Turner’s syndrome, except for a short neck and broad chest, although[jmg.bmj.com] In addition, congenital heart defects, hypoplasia or agenesis of the corpus callosum and in affected males, cryptorchidism and micropenis, have also been observed.[molecularcytogenetics.biomedcentral.com] […] nose Palpebral fissures Up-slanting Horizontal Strabismus Cleft lip/palate Micro/retrognathia Down-turned mouth Malformed ears Short/webbed neck Cardiac defect Renal defect[e-sciencecentral.org]

  • Short Stature - Wormian Bones - Dextrocardia Syndrome

    Anaesthetic-related problems may occur due to the patient's relatively large head and tongue, and for those patients with short necks.[patient.info] callosum agenesis-intellectual disability syndrome Spinocerebellar ataxia 15 MAN1B1-CDG Ichthyosis cheek eyebrow syndrome Wolf-Hirschhorn syndrome Intellectual disability[checkrare.com] Wide spacing between first and second toes ( Matthews and Robin, 2011 ). 3. Skin. a. Short neck with excess nuchal skin. C. Associated findings. 1. Prematurity. 2.[nursekey.com]

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