Orofaciodigital syndrome type 1

Orpha code: 2750OMIM code: 311200

Definition

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

Disease data
Classification

Malformation syndrome

Synonyms
OFD1
OFD1
OFDI
OFDSI
Zespół Papillona, Léage'a i Psaume'a
Zespół ustno-twarzowo-palcowy typu 1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome
ORPHA code
2750
OMIM code
311200
ICD10 code
Q87.0
ICD11 code
LD25.00

No additional description.

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