Preaxial polydactyly-colobomata-intellectual disability syndrome

Orpha code: 2921OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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