Achondroplasia
Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar[fpnotebook.com]
Beyond disproportionate short stature, people with achondroplasia can experience serious health complications, including foramen magnum compression, sleep apnea, bowed legs, mid-face[biomarin.com]
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[biomarin.com]
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.[abcam.com]
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.[ncbi.nlm.nih.gov]
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[en.wikibooks.org]
A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and blepharoptosis.[e-acfs.org]
hypoplasia, neonatal osseous dysplasia, lethal chondrodysplasia TM Patched PTC 9q22.3 601309 Basal cell nevus syndrome (Gorlin syndrome) 109400 AD macrocephaly, broad facies[en.wikibooks.org]
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[ncbi.nlm.nih.gov]
In addition, mid-face hypoplasia, short stature, skeletal anomalies and osteoporosis are common.[ncbi.nlm.nih.gov]
Facial bones are small, mid-face hypoplasia with low nasal bridge, narrow high-arched palate, hypertelorism and conductive deafness may be seen.[jpgmonline.com]
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.[ncbi.nlm.nih.gov]
There is mild mid face hypoplasia and a high arched palate. Life expectancy is normal.[advancedradteaching.com]
The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses.[ncbi.nlm.nih.gov]
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.[en.wikipedia.org]
Mid-face hypoplasia, a hypoplastic thorax, and rhizomelic shortening of the limbs were noted. Soon after birth, he showed respiratory distress.[jmg.bmj.com]
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[clinicaladvisor.com]
Kniest Dysplasia
Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.[ncbi.nlm.nih.gov]
Rothmund Thomson Syndrome
[…] variable extracutaneous findings including cataracts, hypogonadism, short stature, mid-face hypoplasia, and other skeletal abnormalities.[visualdx.com]
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[visualdx.com]