cleidorhizomelic syndrome
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.
MONDO:0002254
syndromic disease
is_a
MONDO:0018230
skeletal dysplasia
is_a
Wallis Zieff Goldblatt syndrome
related
Wallis-Zieff-Goldblatt syndrome
exact
brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle
related
cleido rhizomelic syndrome
related
cleidorhizomelic syndrome
exact
rhizomelic shortness with clavicular defect
exact