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137 Possible Causes for Mid-Face Hypoplasia

  • Achondroplasia

    Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar[] Beyond disproportionate short stature, people with achondroplasia can experience serious health complications, including foramen magnum compression, sleep apnea, bowed legs, mid-face[] hypoplasia, permanent sway of the lower back, spinal stenosis, recurrent ear infections and obesity.Some of these complications can result in invasive surgeries such as spinal[]

  • Autosomal Dominant Rhegmatogenous Retinal Detachment

    Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.[]

  • Weissenbacher-Zweymuller Syndrome

    We report on identical twin male infants with skeletal findings typical of WZS, including small size at birth, proximal limb shortness, mid face hypoplasia, and myopia.[]

  • Autosomal Dominant Prognathism

    Diastrophic dysplasia 222600 AR hypertrophic auricular cartilage, cleft palate, micrognathia Neonatal osseous dysplasia I 256050 AR micrognathia, cleft palate, flat nasal bridge, mid-face[] A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and blepharoptosis.[] hypoplasia, neonatal osseous dysplasia, lethal chondrodysplasia TM Patched PTC 9q22.3 601309 Basal cell nevus syndrome (Gorlin syndrome) 109400 AD macrocephaly, broad facies[]

  • Cleidocranial Dysplasia

    […] typical features of this syndrome, such as large wide-open fontanels, abnormal clavicles with narrow, sloping shoulders that can be apposed at the midline, short stature, mid-face[] In addition, mid-face hypoplasia, short stature, skeletal anomalies and osteoporosis are common.[] Facial bones are small, mid-face hypoplasia with low nasal bridge, narrow high-arched palate, hypertelorism and conductive deafness may be seen.[]

  • Chondrodysplasia Punctata

    At birth, mid-face hypoplasia was marked. Postnatal imaging and genetic analysis confirmed the initial diagnosis. Binder anomaly is probably always associated with CP.[] There is mild mid face hypoplasia and a high arched palate. Life expectancy is normal.[] The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses.[]

  • 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.[] Mid-face hypoplasia, a hypoplastic thorax, and rhizomelic shortening of the limbs were noted. Soon after birth, he showed respiratory distress.[]

  • Hypoventilation

    Because mask ventilation has been associated with mid-face hypoplasia when introduced from infancy or early childhood, mask ventilation should be used with extreme caution[]

  • Kniest Dysplasia

    Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.[]

  • Rothmund Thomson Syndrome

    […] variable extracutaneous findings including cataracts, hypogonadism, short stature, mid-face hypoplasia, and other skeletal abnormalities.[] Disease onset is generally between a few months to 2 years after birth and is characterized by poikiloderma, especially of the face and extremities, and sparse hair, with[]

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