Preaxial polydactyly-colobomata-intellectual disability syndrome

Orpha code: 2921OMIM code:

Definicja

A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Pfeiffer-Mayer syndrome
Zespół Pfeiffera i Mayera
Kod ORPHA
2921
Kod OMIM
-
Kod ICD10
Q87.2
Kod ICD11
-

No additional description.

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