Okamoto syndrome

Orpha code: 2729OMIM code: 604916

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe developmental delay and intellectual disability, generalized hypotonia, growth failure, hydronephrosis, cardiac anomalies, and dysmorphic craniofacial features (such as microcephaly, hypertrichosis, synophrys, long eyelashes, epicanthus, flat nasal bridge, short, upturned nose, long philtrum, low-set ears, open-mouth appearance, full lower lip, cleft palate, and webbed neck). Thin corpus callosum, tethered spinal cord, intestinal malrotation, anal stenosis, and uterus didelphys have also been reported.

Disease data
Classification

Malformation syndrome

ORPHA code
2729
OMIM code
604916
ICD10 code
Q87.8
ICD11 code
LD2Y

No additional description.

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