Orofaciodigital syndrome type 8

Orpha code: 2755OMIM code: 300484

Definition

Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.

Disease data
Classification

Malformation syndrome

Synonyms
OFD8
Zespół ustno-twarzowo-palcowy, typ Edwardsa
OFD8
Zespół ustno-twarzowo-palcowy typu 8
Oral-facial-digital syndrome type 8
Oral-facial-digital syndrome, Edwards type
Orofaciodigital syndrome, Edwards type
ORPHA code
2755
OMIM code
300484
ICD10 code
Q87.0
ICD11 code
LD25.00

No additional description.

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