What does craniofacial deformity syndrome have?

summary

Craniofacial malformation syndrome is also known as H-S syndrome, mandibular, eye, face, skull hypoplasia syndrome, mandibular, eye, face, skull hypoplasia, hair sparsely syndrome, craniofacial, mandibular and eye malformation syndrome, congenital cataract bird face malformation syndrome, congenital cataract and hair sparsely syndrome. What does craniofacial deformity syndrome have? Let's talk about it

What does craniofacial deformity syndrome have?

Craniofacial dysplasia: at birth, there are boat shaped head, triangular head, short head and other malformations, some can have fontanel opening, sagittal and herringbone fissure dehiscence, brain hypoplasia, narrow face, olecranon nose, mandible, small mouth fissure, abnormal auricle, etc., so it is also called bird face deformity syndrome.

Eye deformity: congenital cataract is a characteristic lesion, mostly bilateral, which can spontaneously rupture and absorb. It can also be aphakic. Secondly, strabismus, nystagmus, microphthalmos, small cornea, blue sclera, iris defect, macular degeneration and so on can appear.

Hair and skin abnormalities: eyebrows, eyelashes, armpits, pubic hair and other sparse and absent, pillow, forehead baldness. Can occur sclerotic atrophic skin changes, often skin atrophy, rough, can also appear leukoplakia, vitiligo and so on.

matters needing attention

Premarital physical examination plays a positive role in the prevention of birth defects, which depends on the examination items and contents, mainly including serological examination (such as hepatitis B virus, Treponema pallidum, HIV), reproductive system examination (such as screening for Cervicitis), general physical examination (such as blood pressure, electrocardiogram), family history of diseases, personal history, etc, Do a good job of genetic disease consultation.