Potocki-Shaffer syndrome- MedGen UID:
- 318657
- •Concept ID:
- C1832588
- •
- Disease or Syndrome
Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (609597) (summary by Swarr et al., 2010).
Arthrogryposis-severe scoliosis syndrome- MedGen UID:
- 373169
- •Concept ID:
- C1836756
- •
- Disease or Syndrome
Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis (summary by Bamshad et al., 2009).
For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Sweeney-Cox syndrome- MedGen UID:
- 1625659
- •Concept ID:
- C4540299
- •
- Disease or Syndrome
Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).
Bartsocas-Papas syndrome 2- MedGen UID:
- 1778443
- •Concept ID:
- C5543445
- •
- Disease or Syndrome
Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by Leslie et al., 2015).