Neonatology Book


Crouzon's Disease

Aka: Crouzon's Disease
  1. See Also
    1. Craniosynostosis
  2. Epidemiology
    1. Autosomal Dominant: FGFR2 gene, Chromosome 10
    2. More than half of cases are new mutations
    3. Incidence: 1 in 25,000 live births
    4. Causes 5% of Craniosynostosis cases
  3. Risk factors
    1. Paternal age >35 years
    2. Family History
  4. Clinical findings
    1. Brachycephaly (Craniosynostosis)
    2. Hypertelorism
    3. Proptosis
    4. Maxillary Hypoplasia
    5. Beaked nose
  5. Associated conditions
    1. Cleft Palate
    2. Chiari 1 Malformation
    3. Ear disorders
    4. Cervical Spine disorders
  6. References
    1. Johnston in Behrman (2004) Nelson Pediatrics, p. 1992-3
    2. Kabbani (2004) Am Fam Physician 69:2863-70 [PubMed]

Craniofacial Dysostosis (C0010273)

Definition (MSH) Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
Definition (MSHCZE) Dysostosis cranialis - Crouzonův syndrom; vrozená, větš. autozomálně dědičná porucha vývoje lebky: turicefalie v důsledku předčasného srůstu šípového švu, hypertelorismus, exoftalmus, atrofie zrakového nervu, prognatie, rozštěp patra. (cit. Velký lékařský slovník online, 2013 )
Definition (NCI) A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism.
Definition (CSP) autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism.
Concepts Congenital Abnormality (T019)
MSH D003394
ICD10 Q75.1
SnomedCT 28861008
English Craniofacial Dysostoses, Dysostoses, Craniofacial, Dysostosis, Craniofacial, CROUZON SYNDROME, CROUZON CRANIOFACIAL DYSOSTOSIS, Crouzon's disease (diagnosis), congenital deformity of head Crouzon's disease, craniofacial dysostosis, Crouzon Syndrome, Craniofacial Dysostosis [Disease/Finding], craniofacial dysarthrosis, Crouzon disease, Craniofacial Dysostosis, crouzon disease, crouzons syndrome, crouzon's disease, crouzon syndrome, crouzons disease, syndrome crouzon's, crouzon's syndrome, syndrome craniofacial dysostosis, Craniofacial Dysostosis, Type 1; CFD1, Craniofacial Dysostosis Syndrome, Craniofacial Dysarthrosis, Craniofacial dysostosis, Crouzon's disease, Crouzon syndrome, Trigorhinophalangeal dysplasia, Acrocephalosyndactyly, type II, Apert-Crouzon syndrome, Vogt cephalosyndactyly, Crouzon syndrome (disorder), craniofacial; dysostosis, dysostosis; craniofacial, Crouzon
Swedish Kraniofacial dysostos
Dutch ziekte van Crouzon, craniofaciale dysostose, craniofaciaal; dysostose, dysostose; craniofaciaal, Craniofaciale dysostose, Craniofaciale dysostosis, Crouzon-syndroom, Dysostosis, craniofaciale
French Maladie de Crouzon, Dysostose craniofaciale, Dysostose cranio-faciale
German Crouzon-Syndrom, kranio-faziale Dysostose, Dysostosis cranio-facialis, Dysostosis craniofacialis
Portuguese Doença de Crouzon, Disostose craniofacial, Disostose Craniofacial
Spanish Disostosis craneofacial, Enfermedad de Crouzon, acrocefalosindactilia, tipo II, cefalosindactilia tipo Vogt, disostosis craneofacial, enfermedad de Crouzon, síndrome de Apert - Crouzon, síndrome de Crouzon (trastorno), síndrome de Crouzon, Disostosis Craneofacial
Japanese クルーゾンビョウ, Crouzon症候群, 頭蓋顔面異骨症, トウガイガンメンイコツショウ, Crouzon病, クルーゾン病, クルーゾン症候群, 頭蓋眼窩顔面異骨症, 頭蓋顔面異骨症(ズガイガンメンイコツショウ), 頭蓋顔面骨形成不全, 頭蓋顔面骨形成不全症, 頭蓋骨顔面異骨症, クルゾン病, クルゾン症候群, 頭蓋眼窩顔面異骨症(ズガイガンカガンメンイコツショウ), 頭蓋顔面骨形成不全(ズガイガンメンコツケイセイフゼン), 頭蓋顔面骨形成不全症(ズガイガンメンコツケイセイフゼンショウ)
Czech kraniofaciální dysostóza, Kraniofaciální dysostóza, Crouzonova choroba
Finnish Kraniofasiaalinen dysostoosi
Italian Malattia di Crouzon, Disostosi craniofacciale
Korean 머리얼굴 뼈형성이상
Polish Dyzostoza czaszkowo-twarzowa
Hungarian Craniofacialis dysostosis, Crouzon-betegség
Norwegian Crouzons syndom, Dysostose, kraniofacial, Crouzon sykdom, Kraniofacial dysostose
Derived from the NIH UMLS (Unified Medical Language System)

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