mesomele dysplasie type Kantaputra (aandoening)
mesomele dysplasie type Kantaputra
mesomele dysplasie type Thai
Mesomelic dysplasia Kantaputra type
Kantaputra mesomelic dysplasia
Mesomelic dysplasia Thai type
A rare skeletal disease with characteristics of symmetric shortening of the middle segments of limbs and short stature. It has been described in five families. In the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toe tips. All affected patients have normal craniofacial features and intelligence. Two micro duplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. In all families, the condition is transmitted as an autosomal dominant trait.
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLimb length
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1836
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q78.8
CorrelationSNOMED CT source code to target map code correlation not specified