Preferred Label : Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly;
ICD-11 definition : Metaphyseal dysplasia - maxillary hypoplasia - brachydacty syndrome is characterized
by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked
nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth)
and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers
two and five).;
Origin ID : 1309213842;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty syndrome is characterized
by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked
nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth)
and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers
two and five).