SMDMDM is an extremely rare early lethal spondylometaphyseal dysplasia, charcterized by pre- and postnatal growth retardation, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
16p13.3
SMDMDM is an extremely rare early lethal spondylometaphyseal dysplasia, charcterized by pre- and postnatal growth retardation, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs.