Johanson-Blizzard syndrome- MedGen UID:
- 59798
- •Concept ID:
- C0175692
- •
- Disease or Syndrome
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).
Hall-Riggs syndrome- MedGen UID:
- 341089
- •Concept ID:
- C1856198
- •
- Disease or Syndrome
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.
Oculodentodigital dysplasia, autosomal recessive- MedGen UID:
- 412708
- •Concept ID:
- C2749477
- •
- Disease or Syndrome
Autosomal recessive form of oculodentodigital dysplasia.
Turnpenny-fry syndrome- MedGen UID:
- 1683283
- •Concept ID:
- C5193060
- •
- Disease or Syndrome
Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018).