Otopalatodigital syndrome type 2

Orpha code: 90652OMIM code: 304120

Definition

A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

Disease data
Classification

Malformation syndrome

Synonyms
OPD II syndrome
OPD syndrome 2
OPD II syndrome
OPD syndrome 2
ORPHA code
90652
OMIM code
304120
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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