Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Familial hypospadias

Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
or Autosomal recessive
or X-linked recessive
Age of onset Infancy
  • Q54.0
  • Q54.1
  • Q54.2
  • Q54.3
  • Q54.4
  • Q54.8
  • Q54.9
MeSH -
MedDRA -


Disease definition

Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.


This congenital malformation is not rare, with an estimated prevalence of 1/1000 births but familial forms account for only 10% of cases.

Clinical description

Hypospadias is clinically more or less severe depending on the location of the urether opening. The type of hypospadias is defined according to the origin of the spongious divergence. Hypospadias is said to be posterior when the spongious body diverges from the central root of the penis, it is middle or anterior if the divergence is located on the ventral side of the penis. Among familial forms, all types of hypospadias have the same semiological value, indeed a minor form observed in a father can result in more severe forms in his male progeny.


Hypospadias is due to defective development of the spongious body of the urether, which stays divergent. This spongious body develops under the genital folds between the 8th and 12th week of embryonic development. Several causes of hypospadias have been suggested. Endocrine aetiology of foetal or maternal origin (especially in cases of medically assisted procreation) has been described. Some hypospadias have been linked to a toxic origin (pesticides).

Genetic counseling

Familial forms are identified by determining the medical history of the family.

Management and treatment

Surgical repair of hypospadias relies on numerous techniques, aimed at restoring the missing portion of urether. The simplest approach consists of a recently developed technique involving spongious body repair (spongioplasty). This surgery can be proposed in the first few months of life.

Expert reviewer(s)

  • Pr Frédéric BARGY

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.