camptodactyliesyndroom Guadalajara-type 2 (aandoening)
camptodactyliesyndroom Guadalajara-type 2
Camptodactyly syndrome Guadalajara type 2
An extremely rare multiple congenital anomaly syndrome with characteristics of distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Described in two sisters there have been no further descriptions in the literature since 1985.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1326
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified