Microphthalmia-microtia-fetal akinesia syndrome

Orpha code: 2547OMIM code:

Definicja

A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Thomas-Jewett-Raines syndrome
Zespół Thomasa, Jewetta i Rainesa
Kod ORPHA
2547
Kod OMIM
-
Kod ICD10
Q68.8
Kod ICD11
-

No additional description.

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