Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

Orpha code: 521308OMIM code:

Definition

A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.

Disease data
Classification

Malformation syndrome

ORPHA code
521308
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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