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109 Possible Causes for Apparent Macrocephaly

  • Wiedemann-Rautenstrauch Syndrome

    OFC was normal despite apparent macrocephaly.[] macrocephaly, small face, prognathism, micrognathia, microstoma, low-set ears, high forehead, decreased eyebrows, sparse hair, sparse eyebrows, sparse eyelashes, prominent[] All 3 had short stature, failure to thrive, progeroid appearance, apparent macrocephaly with frontal and parietal bossing, wide fontanels and sutures, prominent scalp veins[]

  • Arthrogryposis Multiplex Congenita

    Rajab et al. (2005) suggested that their patients could be classified as having Escobar syndrome type B because of the apparently recessive inheritance, short stature, relative[] macrocephaly, distinct facial appearance, camptodactyly, congenital foot deformities, and similar skeletal abnormalities such as vertebral defects, scoliosis, and joint dislocations[]

  • Autosomal Dominant Prognathism

    Alternatively, a apparently increased size of the cranium.[] Macrocephaly MedGen UID: 745757 • Concept ID: C2243051 • Finding Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched[]

  • Hereditary Hyperekplexia

    Alternatively, a apparently increased size of the cranium.[] […] stationary night blindness, type 1F Congenital stationary night blindness, type 1E Familial pulmonary capillary hemangiomatosis Protein S deficiency Deficiency of glycerol kinase Macrocephaly[]

  • Mucopolysaccharidosis

    Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[] The affected infants appear normal at birth with slowing of development taking place at about one to two years, occasionally not becoming apparent until early school age.[]

  • Skeletal Dysplasia

    In achondroplasia the dwarfism is readily apparent at birth. likewise, craniofacial abnormalities in the form of macrocephaly and mid-face hypoplasia are present at birth.[]

  • Legius Syndrome

    It is characterized mainly by café au lait macules, axillary freckling, and macrocephaly. Dr.[] Banayan-Riley-Ruvalcaba Syndrome Multiple lipomas and hemangiomas, macrocephaly, pigmented macules of the glan penis, cognitive deficit; autosomal dominant.[] Messiaen and colleagues point out that although a diagnosis may become apparent over time, it can be uncertain for individuals who do not develop multiple signs.[]

  • Macrocephaly

    OBJECTIVES: To compare the outcomes of fetuses with apparently isolated macrocephaly and those with associated findings, and to compare prenatal findings with postnatal diagnoses[] Macrocephaly with short stature is characteristic. Alopecia, delayed closure of the anterior fontanel, and apparent thickening of the cortex in long bones may be seen.[] (M-CM/MCAP) Virtually all cases of CMTC occur randomly for no apparent reason (sporadically).[]

  • Hypertelorism

    Abstract We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental[]

  • Frontonasal Dysplasia

    Apparently, our series is the first to report macrocephaly (six cases).[]

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