Dysmorphism-short stature-deafness-difference of sex development syndrome
Synonyms: Dysmorphism-short stature-deafness-disorder of sex development syndrome | Dysmorphism-short stature-hearing loss-disorder of sex development syndrome | Ieshima-Koeda-Inagaki syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Dysmorphism-short stature-deafness-difference of sex development syndrome?
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