Bilateral postaxial polydactyly

Symptom Information:

Symptom ID: HPO:0006136
Synonyms:
Ptosis [Orphanet:7100]
Ptosis of eyelid (disorder) [Orphanet:7100]
Blepharoptosis [Orphanet:7100]
Bilateral postaxial polydactyly [OMIM:Bilateral postaxial polydactyly]
Eyelid ptosis [Orphanet:7100]
Eyelid ptosis [MedDRA:10015995]
Blepharoptosis [MedDRA:10015995]
Mechanical ptosis [MedDRA:10015995]
Myogenic ptosis [MedDRA:10015995]
Paralytic ptosis [MedDRA:10015995]
Ptosis [MedDRA:10015995]
Ptosis of eyelid [MedDRA:10015995]
Ptosis of eyelid, unspecified [MedDRA:10015995]
Blepharoptosis (in some patients) [OMIM:Blepharoptosis (in some patients)]
Postaxial polydactyly, bilateral [OMIM:Postaxial polydactyly, bilateral]
Postaxial polydactyly, bilateral (in some patients) [OMIM:Postaxial polydactyly, bilateral (in some patients)]
Ptosis (50%) [OMIM:Ptosis (50%)]
Ptosis (HCS) [OMIM:Ptosis (HCS)]
Ptosis (about half of patients) [OMIM:Ptosis (about half of patients)]
Ptosis (in some patients) [OMIM:Ptosis (in some patients)]
Ptosis (less common) [OMIM:Ptosis (less common)]
Ptosis (rare) [OMIM:Ptosis (rare)]
Ptosis (with longer disease duration) [OMIM:Ptosis (with longer disease duration)]
Quality:
Cross references:
HPO:0001488 "Bilateral ptosis" [Orphanet:7100]
HPO:0000508 "Ptosis" [Orphanet:7100]
Orphanet:7100 "Ptosis" [Orphanet:7100]
OMIM: "Bilateral postaxial polydactyly" [OMIM:Bilateral postaxial polydactyly]
OMIM: "Blepharoptosis (in some patients)" [OMIM:Blepharoptosis (in some patients)]
OMIM: "Postaxial polydactyly, bilateral" [OMIM:Postaxial polydactyly, bilateral]
OMIM: "Postaxial polydactyly, bilateral (in some patients)" [OMIM:Postaxial polydactyly, bilateral (in some patients)]
OMIM: "Ptosis (50%)" [OMIM:Ptosis (50%)]
OMIM: "Ptosis (HCS)" [OMIM:Ptosis (HCS)]
OMIM: "Ptosis (about half of patients)" [OMIM:Ptosis (about half of patients)]
OMIM: "Ptosis (in some patients)" [OMIM:Ptosis (in some patients)]
OMIM: "Ptosis (less common)" [OMIM:Ptosis (less common)]
OMIM: "Ptosis (rare)" [OMIM:Ptosis (rare)]
OMIM: "Ptosis (with longer disease duration)" [OMIM:Ptosis (with longer disease duration)]
UMLS:C0033377 "Ptosis" [Orphanet:7100]
UMLS:C0005745 "Blepharoptosis" [Orphanet:7100]
Is a (Direct Parents):
HPO         Postaxial hand polydactyly
MedDRA Ocular signs and symptoms NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the upper limb(HPO:0002817)
                      Abnormality of the hand(HPO:0001155)
                         Duplication of hand bones(HPO:0004275)
                            Duplication of phalanx of hand(HPO:0009997)
                               Hand polydactyly(HPO:0001161)
                                  Postaxial hand polydactyly(HPO:0001162)
                                     Bilateral postaxial polydactyly(HPO:0006136)
                         Abnormality of finger(HPO:0001167)
                            Abnormality of the 5th finger(HPO:0004207)
                               Postaxial hand polydactyly(HPO:0001162)
                                  Bilateral postaxial polydactyly(HPO:0006136)
                            Abnormality of phalanx of finger(HPO:0005918)
                               Duplication of phalanx of hand(HPO:0009997)
                                  Hand polydactyly(HPO:0001161)
                                     Postaxial hand polydactyly(HPO:0001162)
                                        Bilateral postaxial polydactyly(HPO:0006136)
                      Duplication of bones involving the upper extremities(HPO:0009142)
                         Duplication of hand bones(HPO:0004275)
                            Duplication of phalanx of hand(HPO:0009997)
                               Hand polydactyly(HPO:0001161)
                                  Postaxial hand polydactyly(HPO:0001162)
                                     Bilateral postaxial polydactyly(HPO:0006136)
                   Abnormality of digit(HPO:0011297)
                      Polydactyly(HPO:0010442)
                         Postaxial polydactyly(HPO:0100259)
                            Postaxial hand polydactyly(HPO:0001162)
                               Bilateral postaxial polydactyly(HPO:0006136)
                         Hand polydactyly(HPO:0001161)
                            Postaxial hand polydactyly(HPO:0001162)
                               Bilateral postaxial polydactyly(HPO:0006136)
                      Abnormality of finger(HPO:0001167)
                         Abnormality of the 5th finger(HPO:0004207)
                            Postaxial hand polydactyly(HPO:0001162)
                               Bilateral postaxial polydactyly(HPO:0006136)
                         Abnormality of phalanx of finger(HPO:0005918)
                            Duplication of phalanx of hand(HPO:0009997)
                               Hand polydactyly(HPO:0001161)
                                  Postaxial hand polydactyly(HPO:0001162)
                                     Bilateral postaxial polydactyly(HPO:0006136)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Neurological disorders of the eye(MedDRA:10029301)
       Ocular signs and symptoms NEC(MedDRA:10030952)
          Bilateral postaxial polydactyly(HPO:0006136)
Database Frequency: 30 / 7739
Resource:

All diseases associated with this symptom:

2p21 microdeletion syndrome (Orphanet:163693)
3q13 microdeletion syndrome (Orphanet:1621)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Bardet-Biedl syndrome 9 (OMIM:615986)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cranioectodermal dysplasia 3 (OMIM:614099)
DEND syndrome (Orphanet:79134)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Isolated plagiocephaly (Orphanet:35098)
Kearns-Sayre syndrome (Orphanet:480)
Koolen-De Vries syndrome (Orphanet:96169)
MELAS (Orphanet:550)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 (OMIM:615351)
MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Maternally-inherited diabetes and deafness (Orphanet:225)
Mitochondrial DNA deletion syndrome with progressive myopathy (Orphanet:352470)
Mowat-Wilson syndrome (Orphanet:2152)
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 (OMIM:613561)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
Orofaciodigital syndrome type 2 (Orphanet:2751)
POLYDACTYLY, POSTAXIAL, TYPE A5 (OMIM:263450)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 (OMIM:613077)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (Orphanet:306558)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Spinocerebellar ataxia type 28 (Orphanet:101109)
WERNICKE-KORSAKOFF SYNDROME (OMIM:277730)
Wolfram syndrome 1 (OMIM:222300)