Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
1p36.12
Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 224410.1 | Arab | Male | Yes | Neonatal respiratory distress; Prominent... Neonatal respiratory distress; Prominent nose; Short stature; Microcephaly; Scoliosis  | NM_005529.7:c.10894C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | ||
| 224410.2 | Saudi Arabia | Male | Yes | Kyphosis; Cervical spinal canal stenosis... Kyphosis; Cervical spinal canal stenosis; Narrow mouth; Long eyelashes; Brachycephaly | NM_005529.7:c.9970G>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 |