Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans (SSOAOD)

The cover of 'Rare Disease Series #11 SSOAOD'

About SSOAOD

The ACAN gene is divided into various sections. The gene codes for the protein aggrecan, which is very abundant in our body's cartilages.
Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans (SSOAOD) is a rare disease derived from the defected ACAN gene.

The gene codes for the protein, ‘aggrecan,’ which is very abundant in our body’s cartilages.

PREVALENCE / ONSET

Map background with the silhouette of a boy and words saying "Less than 1 in 1,000,000 worldwide."

Prevalence

The prevalence of SSOAOD is less than 1 in 1,000,000 worldwide.

Onset

As the name of the disease implies, symptoms of SSOAOD are present from childhood or adolescence.

SYMPTOMS

Seven symptoms of SSOAOD: Short stature, Flat nasal bridge, Abnormal facial shape, Frontal bossing, Brachydactyly(short fingers and toes), Knee and elbow pain, Advanced bone age for chronological age

DIAGNOSIS

The diagnosis of SSOAOD can be done with clinical evaluation and genetic testing.

Since the cause of symptoms present in SSOAOD -such as short stature and frontal bossing - varies, genetic testing is essential in finding the genetic cause.

To learn more about detailed diagnosis story of a boy with SSOAOD, read Diagnosis story of a boy diagnosed with SSOAOD.

INHERITANCE PATTERN

A family tree showing the autosomal dominant inheritance pattern of SSOAOD.
SSOAOD is known to inherit in an autosomal dominant pattern.

TREATMENTS

  1. ic-treatments-black@3x-3
  2. Several research cases have shown that, if diagnosed prior to puberty, normal adult height could be achieved with appropriate treatment. Treatment with drugs that delay sexual maturity (GnRH agonist) and growth hormone was effective in treating SSOAOD.

Helpful Communities for SSOAOD

Currently, no specific support groups are available. Visit the below websites to learn more about various support groups.

Reference:

  • OMIM
  • Malacards
  • ORPHANET
  • APEM
    Kim, T. Y., Jang, K. M., Keum, C. W., Oh, S. H., & Chung, W. Y. (2020). Identification of a heterozygous ACAN mutation in a 15-year old boy with familial short stature presenting an advanced bone age: A case report. Annals of Pediatric Endocrinology & Metabolism. doi:10.6065/apem.1938198.099
  • JCEM
    Manouk van der Steen, Rolph Pfundt, Stephan J.W.H. Maas, Willie M. Bakker-van Waarde, Roelof J. Odink, Anita C.S. Hokken-Koelega, ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone