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

Orpha code: 2282OMIM code:

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Dysmorphism-short stature-hearing loss-disorder of sex development syndrome
Dysmorfia - niski wzrost - głuchota - pseudohermafrodytyzm
Ieshima-Koeda-Inagaki syndrome
Dysmorphism-short stature-deafness-disorder of sex development syndrome
ORPHA code
2282
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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