Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
6p21.32
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 215150.1 | Saudi Arabia | Female | Yes | Yes | Micromelia; Abnormal facial shape Micromelia; Abnormal facial shape  | NM_080680.3:c.1808dup | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | |
| 215151.2 | Saudi Arabia | Female | Yes | Yes | Sensorineural hearing impairment; Limb u... Sensorineural hearing impairment; Limb undergrowth; Relative macrocephaly; Narrow chest | NM_080680.3:c.2755G>C | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 |