Autosomal dominant deafness - onychodystrophy syndrome- MedGen UID:
- 382676
- •Concept ID:
- C2675730
- •
- Disease or Syndrome
The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962).
See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation.
Temple-Baraitser syndrome- MedGen UID:
- 395636
- •Concept ID:
- C2678486
- •
- Disease or Syndrome
Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Most patients also have seizures; various dysmorphic facial features have been reported (summary by Jacquinet et al., 2010).