MedGen

Developmental dysplasia of the hip-3 (DDH3) is characterized by an acetabulum with significantly decreased volume, which increases local stress on the articular surface and causes instability of the hip joint, with pain, disability, and eventually osteoarthritis of the joint. A mouse model has demonstrated that LRP1 deficiency causes DDH through early closure of the Y-shaped triradiate cartilage of the acetabulum (Yan et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of DDH, see DDH1 (142700). [from OMIM]

Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015). [from OMIM]