HealthCareMagic is now Ask A Doctor - 24x7 | https://www.askadoctor24x7.com

Get your health question answered instantly from our pool of 18000+ doctors from over 80 specialties
159 Doctors Online

By proceeding, I accept the Terms and Conditions

Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

HCM Blog Instant Access to Doctors
HCM BlogQuestions Answered
HCM Blog Satisfaction
Article Home Children's Health Yunis Varon Syndrome

Yunis Varon Syndrome

By :
Publisher
1099 Views
Yunis Varon syndrome is a rare and congenital disorder which involves multiple system malfunctions of the body. It generally affects the skeletal system, ectodermal system and sometimes the cardiorespiratory system is also suffered with various malfunctions.

 The condition is believed to be autosomal recessive in nature, which means that if both parents are carrier of the disease i.e. both have defective gene as a recessive trait, then the chances of the disease transmitting to their children is 25 %. If four babies are there then only one of them will be the sufferer of the disease while the two of the babies will be carriers of the disease, while one of the babies will neither be sufferer nor the carrier. The disease is described recently in 1980’s and most of the infants who are born with the condition survived less than one year. The important characteristic of the disease presentation will be growth defect in both prenatal and post natal periods, defective growth of skull bones, partial absence of clavicles and some other typical facial features.

Signs and Symptoms

  • Failure to thrive
  • Wide calvarial suture
  • Enlarged fontanels
  • Small philtrum
  • Lower ear lobes
  • Hypoplastic ears
  • Lose skin around ears
  • Hypoplasia of toes
  • Absence of greater toe
  • Hypoplasia of one or both clavicles
  • Absent sternal ossification
  • Absent thumbs
  • Absence of toes
  • Abnormal scapula
  • Labiogingival retraction
  • Prenatal growth deficiency
  • Severe developmental delay
  • Small head
  • Sparse hairs
  • Sparse eye brows

Diagnosis and Investigations

Diagnosis is mainly based on clinical features and the relevant clinical history of the parents. Some investigations are done to confirm the diagnosis and to deal with the complications.

Treatment and Investigations

Treatment is mainly symptomatic and generally includes life saving measures, looking at the severity of the disease

Parental counseling is also done so as to ensure a proper screening of the fetus during the further pregnancies.