Preferred Label : Mesomelic dysplasia, kantaputra type;
Symbol : MMDK;
CISMeF acronym : MDK; MMDK;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : MDK; Mesomelic dysplasia with ankle, carpal, and tarsal synostosis; Mesomelic dysplasia, thai type;
Description : Kantaputra mesomelic dysplasia (MMDK) is a rare, autosomal dominant skeletal disease
characterized by symmetric marked shortening of the upper and lower limbs. The ulnae
are very short and the radii are bowed. The distal humerus has a dumbbell shape, whereas
the hands are relatively normal but show progressive flexion contractures of the proximal
interphalangeal joints. Carpal and tarsal synostoses are observed in some individuals.
In the lower limbs, the feet are fixed in plantar flexion with the sole facing backward,
causing 'ballerina-like standing.' The prominent distal fibula on the ventral aspect
is considered to be the signature finding of the syndrome. The calcaneus is small
or missing, and a small fibula and talus as well as fibulocalcaneal synostosis are
characteristic features. The tibial bony knot articulates with the proximal end of
the fibula (summary by Kantaputra et al., 2010). See 613681 for discussion of the
chromosome 2q31.1 duplication syndrome, which shows cytogenetic and phenotypic overlap
with MMDK.;
Inheritance : Autosomal dominant;
Prefixed ID : #156232;
Origin ID : 156232;
UMLS CUI : C1835009;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
