Hallermann-Streiff syndrome (HSS) is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial (craniofacial) region; sparse hair (hypotrichosis); eye abnormalities; dental defects; degenerative skin changes (atrophy), particularly in the scalp and nasal regions; and proportionate short stature. Characteristic craniofacial features include a short, broad head (brachycephaly) with an unusually  Read More

Frontofacionasal dysplasia is a rare genetic disorder that is apparent at birth (congenital). The disorder is primarily characterized by malformations of the head and facial (craniofacial) area and eye (ocular) defects. Craniofacial malformations may include an unusually short, broad head (brachycephaly); incomplete closure of the roof of the mouth (cleft palate); an abnormal groove in the upper lip (cleft lip); and underdevelopment (hypoplasi  Read More

Chromosome 10, monosomy 10p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 10 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable, depending upon the exact size or location of the deletion on chromosome 10p. However, associated features often include severe intellectual disability; growth delays after birth (postnatal growth retardation); distin  Read More

Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities. These may include restricted joint movem  Read More

Chromosome 3, Monosomy 3p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable. However, associated features often include growth delays before and after birth (prenatal and postnatal growth deficiency); severe to profound mental retardation; distinctive malformations of the skull and facial (crani  Read More

Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For example, the disorder is typically associated with premature closure of the fibrous joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdevelop  Read More