Dysmorphism-short stature-deafness-disorder of sex development syndrome

MONDO:0016433

Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.

Also known as: Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome

5 clinical trials for this condition and its sub-types, 0 tagged with Dysmorphism-short stature-deafness-disorder of sex development syndrome itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ 46,XY disorder of sex development (10)

Including sub-types (5) Tagged with Dysmorphism-short stature-deafness-disorder of sex development syndrome (0)

Trials to join now! 4 Not yet finished but already full! 1

Reading the genetic code to understand differences in sex development

Knowledge-focused By invitation only

This study aims to find genetic causes of conditions that affect the development of the gonads and genitals, such as hypospadias and ambiguous genitalia. Researchers will use whole exome sequencing to analyze DNA from 300 children and their families. The study also measures how r…

Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Jul 24, 2026 00:00 UTC

Dysmorphism-short stature-deafness-disorder of sex development syndrome

Where it sits in the disease tree

Reading the genetic code to understand differences in sex development