metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
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). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.
MONDO:0002254
syndromic disease
is_a
MONDO:0018230
skeletal dysplasia
is_a
MDMHB
related
metaphyseal dysplasia maxillary hypoplasia brachydactyly
related
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
related