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

Orpha code: 2282OMIM code:

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
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
Kod ORPHA
2282
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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