U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

MedGen UID:
1799315
Concept ID:
C5567892
Disease or Syndrome
Synonyms: Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome; frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
SNOMED CT: Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome (1177166006)
 
Monarch Initiative: MONDO:0035018
Orphanet: ORPHA521308

Definition

A rare syndromic frontonasal dysplasia with characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFrontonasal dysplasia-bifid nose-upper limb anomalies syndrome

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...