The disorder causes facial abnormalities, skeletal malformation and occasionally neural tube defects; the skeletal disfigurements resolve to a degree in the course of development. Mutations in different parts of the gene may lead to deafness or Stickler syndrome type III (eye problems: myopia, retinal detachment and skeletal abnormalities). Infants and children: Infants that are born with<unk>  usually have short bones in their arms and legs. The thigh and upper arm bones are wider than usual resulting in a dumbbell-shape while the bones of the vertebrae may be abnormal. Typical abnormal facial features can be wide-set protruding eyes (hypertelorism), a small and upturned nose with a flat bridge, small jaw (micrognathia) and a cleft palate. Some infants have high-frequency hearing loss. Infants may also exhibit a psychomotor delay. After the period of growth deficiency the individual makes improvements in bone growth leading to a normal physical development around age 5 or 6. Adults: Many with<unk>  have a catch-up growth phase causing the adults to not be unusually short. Many adults still will have hearing loss and typical abnormal facial features of<unk> .
Weissenbacher–Zweymüller syndrome
Smith–Magenis syndrome
Schinzel–Giedion syndrome
Marshall–Smith syndrome
Smith–Lemli–Opitz syndrome
Goldberg–Shprintzen syndrome
Bardet–Biedl syndrome
Kapur–Toriello syndrome