Pallister-Hall syndrome- MedGen UID:
- 120514
- •Concept ID:
- C0265220
- •
- Disease or Syndrome
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.
Chondrodysplasia Blomstrand type- MedGen UID:
- 395189
- •Concept ID:
- C1859148
- •
- Disease or Syndrome
Blomstrand chondrodysplasia (BOCD) is a lethal autosomal recessive disorder characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation (summary by Loshkajian et al., 1997).