Orofaciodigital syndrome type 6

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 52

HPO ID Term Frequency
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000180 Lobulated tongue Frequent (79-30%)
HP:0000190 Abnormal oral frenulum morphology Frequent (79-30%)
HP:0000199 Tongue nodules Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000276 Long face Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0000455 Broad nasal tip Frequent (79-30%)
HP:0000565 Esotropia Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001159 Syndactyly Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001288 Gait disturbance Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001510 Growth delay Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0002419 Molar tooth sign on MRI Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0004422 Biparietal narrowing Frequent (79-30%)
HP:0007036 Hypoplasia of olfactory tract Frequent (79-30%)
HP:0007930 obsolete Prominent epicanthal folds Frequent (79-30%)
HP:0008689 Bilateral cryptorchidism Frequent (79-30%)
HP:0008872 Feeding difficulties in infancy Frequent (79-30%)
HP:0011802 Hamartoma of tongue Frequent (79-30%)
HP:0040019 Finger clinodactyly Frequent (79-30%)
HP:0100258 Preaxial polydactyly Frequent (79-30%)
HP:0000104 Renal agenesis Occasional (29-5%)
HP:0000426 Prominent nasal bridge Occasional (29-5%)
HP:0001161 Hand polydactyly Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001320 Cerebellar vermis hypoplasia Occasional (29-5%)
HP:0001337 Tremor Occasional (29-5%)
HP:0001627 Abnormal heart morphology Occasional (29-5%)
HP:0001829 Foot polydactyly Occasional (29-5%)
HP:0002104 Apnea Occasional (29-5%)
HP:0002269 Abnormality of neuronal migration Occasional (29-5%)
HP:0002444 Hypothalamic hamartoma Occasional (29-5%)
HP:0002553 Highly arched eyebrow Occasional (29-5%)
HP:0002876 Episodic tachypnea Occasional (29-5%)
HP:0006145 Central Y-shaped metacarpal Occasional (29-5%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0008678 Renal hypoplasia/aplasia Occasional (29-5%)
HP:0009084 Midline notch of upper alveolar ridge Occasional (29-5%)
HP:0100260 Mesoaxial polydactyly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 7

Gene Symbol Gene Name Entrez Gene ID
OFD1 OFD1 centriole and centriolar satellite protein 8481
TMEM216 transmembrane protein 216 51259
KIF7 kinesin family member 7 374654
CPLANE1 ciliogenesis and planar polarity effector 1 65250
TCTN3 tectonic family member 3 26123
PDE6D phosphodiesterase 6D 5147
KIAA0753 KIAA0753 9851