Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
5q11.2-q12.1
Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614613.1 | Lebanon | Unknown | No | Intellectual disability; Neurodevelopmen... Intellectual disability; Neurodevelopmental delay; Seizure; Macrocephaly; Abnormal facial shape; Abnormality of the skeletal system; Growth delay; Short stature  | NM_001104631.2:c.73A>G | Heterozygous | Autosomal, Dominant | Jalkh et al. 2019 | Parents are from the... |