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1,686 Possible Causes for Macrocephaly

  • Mucopolysaccharidosis

    The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[]

  • Obstructive Hydrocephalus

    Progressive macrocephaly prompted an MRI confirming triventricular hydrocephalus secondary to aqueductal stenosis.[] Serial enlargement of the lateral ventricles 1.5 mm/week and fetal macrocephaly were documented.[] Before the bony sutures of the skull have fused in a child, hydrocephalus may present as progressive and abnormal enlargement of the head (macrocephaly).[]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[] Signs and symptoms of MPS 2A include: Macrocephaly Coarse facies Large rounded cheeks Thick lips Hypertrophic adenoids and tonsils Macroglossia Hoarse voice Short neck Retinal[]

  • CINCA Syndrome

    Craniofacial abnormalities include macrocephaly with frontal bossing, saddle-back nose, and delayed closure of the anterior fontanel.[] Other findings that have been reported include macrocephaly (95%), large fontanelle, prominent forehead, flattening of the nasal bridge (saddleback nose), short and thick[]

  • Congenital Cortical Hyperostoses

    Leri-Weill dyschondrosteosis Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density Leukoencephalopathy with Metaphyseal Chondrodysplasia Lowry Wood Syndrome Macrocephaly[] […] scarification Purpose(s) Part Four: Congenital anomalies Congenital skeletal anomolies Skull malformations Craniosynostoses Complex craniofacial deformities Anencephaly Microcephaly Macrocephaly[]

  • Hypochondroplasia

    Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly.[] Prenatal sonographic examinations performed at 32 and 35 weeks' gestation revealed a rhizomelic shortness of the long bones (femur and humerus) with macrocephaly.[] Abstract Achondroplasia (ACH) is a frequent condition of unknown origin characterized by short-limbed dwarfism and macrocephaly.[]

  • Achondroplasia

    Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly.[] The diagnosis of achondroplasia is based on typical clinical and radiological features including short stature, macrocephaly with frontal bossing, midface hypoplasia and rhizomelic[] The clinical and radiological features of achondroplasia can easily be identified; they include disproportionate short stature with rhizomelic shortening, macrocephaly with[]

  • Mucopolysaccharidosis 6

    [] Macrocephaly Macrocephaly and sternal abnormalities can be present at birth, and inguinal/umbilical hernias are common.[] Macrocephaly and sternal abnormalities can be present at birth, and inguinal/umbilical hernias are common.[] The features of MPS VI include macrocephaly, hydrocephalus and macroglossia.[]

  • Mucopolysaccharidosis 1

    Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[] Individuals with MPS I may have a large head ( macrocephaly ), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features[]

  • Beta Thalassemia

    Extramedullary hematopoiesis (EMH) is a normal response to failure of hematopoiesis at its normal site i.e., bone marrow. It is a manifestation of many congenital hemolytic anemias and marrow failure secondary to myelodysplastic syndromes. Usually, extramedullary myeloid proliferation occurs in liver, spleen and lymph[…][]

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