Crane-Heise-syndroom (aandoening)
syndroom met cheiloschisis en palatoschisis, pes equinovarus en agenesie van clavicula en vertebra cervicalis
syndroom van Crane-Heise
syndroom met gespleten lip en gehemelte, talipes en agenese van sleutelbeen en halswervel
Crane Heise syndrome
A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Nine cases have been reported in the literature so far. Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant. It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait. Prognosis is poor, the syndrome is almost always lethal soon after birth.
Associated morphologyaplasia
Finding sitebotstructuur van clavicula
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen
SNOMED CT to Orphanet simple map1512
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified