Crewdson's syndrome
Crohn's syndrome
Cruzhong's disease
Origin: Crouzon first described the illness of a mother and daughter in 19 12.
Etiology: Its pathogenic cause was first found in 1994, which was caused by the defect of fibroblast growth factor receptor -2 (FGFR2) gene. Subsequently, a new research report pointed out that the mutation of FGFR3 may also lead to Crewdson's syndrome.
FGFR2 and FGFR3 are located on chromosomes 10 and 4 respectively, belonging to the FGFR gene family, which are closely related to the formation and normal development of bones and cartilage, so when the genes mutate, they will cause specific bone or soft tissue abnormalities.
Incidence: about 1/25000 ~ 1/60000.
Inheritance mode: an autosomal dominant genetic disease, but most of them are gene mutations. Up to now, all the gene mutations found are point mutations, and the common ones are C342Y, Y340H, S354C of FGFR2 and P250R of FGFR3.
Clinical features:
The performance of various parts of the body
Head characteristics
Premature closure of cranial suture; Cranial suture junction
Facial skeletal dysplasia
The top of the head is often pointed or flat (so the head circumference is smaller than the average person)
facial characteristic
Mid-facial dysplasia
The beak-shaped aquiline nose and nose root are flat.
Zygomatic arch hypoplasia/chin is mostly fighting.
The upper lip is short, the lower lip is slack and drooping/the upper jaw is narrow and arched.
The upper row of teeth is delayed to erupt due to maxillary dysplasia, and the teeth are crowded and messy.
Eye characteristics
The orbit is shallow, often esotropia or drooping eyelids.
Large distance between eyes/nystagmus
Exophthalmos and eyelid can not be completely closed, which often leads to exposure conjunctivitis or keratitis.
About 45% patients will have vision problems.
About 15% patients may have optic atrophy, which will seriously damage their vision.
Ear characteristics
Stenosis of external auditory canal.
About 50% patients will suffer from acoustic deafness.
Secondary hearing loss/ossicular development problems
Joint aspect
A few patients will have stiff elbow joints and cannot move flexibly.
Intellectually
Skull suture heals prematurely, and the intracranial space is not enough for the growing brain, so headaches often occur. About 10% patients will have unexplained spasms, but most of them have normal intelligence.
Treatment: Generally speaking, there is no need for active treatment, as long as you follow up regularly, pay attention to whether there is excessive brain pressure or hydrocephalus; If necessary, drug control or shunt can be installed to reduce brain pressure.
It is very necessary to check the eyesight and hearing, so that disabled patients can be found at an early stage, and they can be corrected as soon as possible without affecting their learning process.
Orthodontics and craniofacial plastic surgery depend on the individual situation of the patient, which needs careful evaluation by experts, and then reasonable treatment plan is planned.
Prognosis: Most patients have a fairly good normal life, careful nursing and good self-adjustment.