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.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613320.1.1 | Lebanon | Female | Yes | Yes | Global developmental delay; Abnormal fa... Global developmental delay; Abnormal facial shape; Short ribs; Cupped ribs; Severe platyspondyly; Squared iliac bones; Hypoplastic ischia; Broad femoral metaphyses;  | NM_016069.10:c.226A>G | Homozygous | Autosomal, Recessive | Mégarbané et al, 2008; Mehawej et al, 2014 | |
| 613320.1.2 | Lebanon | Male | Yes | Yes | Global developmental delay; Abnormal f... Global developmental delay; Abnormal facial shape; Short ribs; Cupped ribs; Severe platyspondyly; Squared iliac bones; Hypoplastic ischia; Broad femoral metaphyses; | NM_016069.10:c.226A>G | Homozygous | Autosomal, Recessive | Mégarbané et al, 2008; Mehawej et al, 2014 | Sibling of 613320.1.... |
| 613320.2.1 | Lebanon | Male | Yes | Yes | Intrauterine growth retardation; Postna... Intrauterine growth retardation; Postnatal growth retardation; Cupped ribs; Platyspondyly; Squared iliac bones; Delayed epiphyseal ossification; Cardiomegaly; | NM_016069.10:c.226A>G | Homozygous | Autosomal, Recessive | Mégarbané et al, 2014; Mehawej et al, 2014 | |
| 613320.2.2 | Lebanon | Female | Yes | Yes | Neonatal hypotonia; Rhizomelic leg shor... Neonatal hypotonia; Rhizomelic leg shortening; Cupped ribs; Platyspondyly; Squared iliac bones; Delayed epiphyseal ossification; Cardiomegaly; | NM_016069.10:c.226A>G | Homozygous | Autosomal, Recessive | Mégarbané et al, 2014; Mehawej et al, 2014 | Sibling of 613320.2.... |