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Orofaciodigital syndrome XI(OFD11)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Gabrielli syndrome; OFD syndrome 11; OFDS 11; OFDS XI; Oral-facial-digital syndrome type 11; Oral-facial-digital syndrome with skeletal anomalies; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XI; Orofaciodigital syndrome 11
SNOMED CT: Oro-facial digital syndrome type 11 (718681002); Oral-facial-digital syndrome type 11 (718681002); Orofaciodigital syndrome type 11 (718681002); Oral-facial-digital syndrome Gabrielli type (718681002); Orofaciodigital syndrome Gabrielli type (718681002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
Concept ID:
Source: Orphanet
clinical entity without genetic inheritance.
Monarch Initiative: MONDO:0013035
OMIM®: 612913
Orphanet: ORPHA141000


An extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases and characteristics of facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. [from SNOMEDCT_US]

Clinical features

From HPO
Postaxial polydactyly
MedGen UID:
Concept ID:
Disease or Syndrome
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the FAM98A gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.
Gastroesophageal reflux
MedGen UID:
Concept ID:
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
MedGen UID:
Concept ID:
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Intellectual disability
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
MedGen UID:
Concept ID:
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Odontoid hypoplasia
MedGen UID:
Concept ID:
The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).
Bulbous nose
MedGen UID:
Concept ID:
Increased volume and globular shape of the anteroinferior aspect of the nose.
Downslanted palpebral fissures
MedGen UID:
Concept ID:
The palpebral fissure inclination is more than two standard deviations below the mean.
Wide nasal bridge
MedGen UID:
Concept ID:
Increased breadth of the nasal bridge (and with it, the nasal root).
Cleft palate
MedGen UID:
Concept ID:
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOrofaciodigital syndrome XI
Follow this link to review classifications for Orofaciodigital syndrome XI in Orphanet.

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