Exostoses-anetodermia-brachydactyly type E syndrome- MedGen UID:
- 338695
- •Concept ID:
- C1851428
- •
- Disease or Syndrome
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.
Brachydactyly, type E, with atrial septal defect, type 2- MedGen UID:
- 354662
- •Concept ID:
- C1862101
- •
- Disease or Syndrome
Brachydactyly type E1- MedGen UID:
- 396291
- •Concept ID:
- C1862102
- •
- Finding
Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.
Brachydactyly-arterial hypertension syndrome- MedGen UID:
- 349445
- •Concept ID:
- C1862170
- •
- Disease or Syndrome
The hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by Maass et al., 2015).
Chromosome 2q37 deletion syndrome- MedGen UID:
- 419169
- •Concept ID:
- C2931817
- •
- Disease or Syndrome
Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015).