The topic Acrodysplasia V you are seeking is a synonym, or alternative name, or is closely related to the medical condition Trichorhinophalangeal Syndrome Type I.

Quick Summary:

• Trichorhinophalangeal Syndrome is a rare, genetic disorder characterized by sparse scalp hair, thin nails, pear-shaped broad nose, and cone-shaped epiphyses (the end portion of long bones that is usually rounded) of the middle phalanges of some fingers and toes
• The various types of the condition that has been defined include:
  • Trichorhinophalangeal Syndrome Type I
  • Trichorhinophalangeal Syndrome Type II
  • Trichorhinophalangeal Syndrome Type III

Trichorhinophalangeal Syndrome Type I (TRPS1) is a rare, multisystem, autosomal dominant disorder that is characterized by the following features:

• Typical facial appearances such as:
  • Scarce scalp hair, slow-growing hair, and a high frontal hairline
  • Rarefaction (thinning) of the lateral eyebrows
  • Pear-shaped and rounded nose
  • Prolonged and extended philtrum, thin upper lip
  • Receding chin and protruding ears
  • Abnormally-small jaw
  • Dental anomalies
• Skeletal abnormalities
• Cone-shaped epiphysis (growing ends of the bones) in fingers and toes
• Short stature
• Hip malformations

Trichorhinophalangeal Syndrome Type I is a form of ectodermal dysplasia, a disorder that is derived from prenatal defects of the teeth, hair, nails, and the sweat glands. It is the most common of all the 3 types.

• Trichorhinophalangeal Syndrome Type I is believed to be caused by mutations in the TRPS1 gene, which is located on chromosome 8. It is associated with transcriptional repressor that is responsible for hair development and chondrocyte modulation 

Please find comprehensive information on Trichorhinophalangeal Syndrome Type I regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.