Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
1q42.12
Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA) is an autosomal recessive disorder characterized by rhizomelic skeletal dysplasia of variable severity with or without abnormal nuclear shape and chromatin organization in blood granulocytes. Initial skeletal features may improve with age. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618019.1 | Saudi Arabia | Male | Yes | Yes | Short stature; Long thorax; Limb undergr... Short stature; Long thorax; Limb undergrowth; Thick vermilion border; Downslanted palpebral fissures; Macrocephaly  | NM_002296.4:c.1535G>A | Homozygous | Autosomal, Recessive | Monies et al. 2017 | |
| 618019.2 | Saudi Arabia | Female | Yes | Yes | Short stature; Limb undergrowth; Thick v... Short stature; Limb undergrowth; Thick vermilion border; Downslanted palpebral fissures; Skeletal dysplasia | NM_002296.4:c.1535G>A | Homozygous | Autosomal, Recessive | Monies et al. 2017 | |
| 618019.3 | Saudi Arabia | Female | Yes | Yes | Rhizomelia; Abnormal skeletal morphology Rhizomelia; Abnormal skeletal morphology | NM_002296.4:c.1535G>A | Homozygous | Autosomal, Recessive | Monies et al. 2017 |