Blepharophimosis

Symptom Information:

Symptom ID: HPO:0000581
Synonyms:
Narrow palpebral fissures [HPO:0000581]
Short palpebral fissure [HPO:0000581]
Short palpebral fissures [HPO:0000581]
Short palpebral fissure [Orphanet:7150]
Short palpebral fissure (finding) [Orphanet:7150]
Blepharophimosis [Orphanet:7150]
Blepharophimosis [OMIM:Blepharophimosis]
Narrow palpebral fissures [OMIM:Narrow palpebral fissures]
Short palpebral fissure [OMIM:Short palpebral fissure]
Short palpebral fissures [OMIM:Short palpebral fissures]
short palpebral fissures [OMIM:short palpebral fissures]
Blepharophimosis/short palpebral fissures [Orphanet:7150]
Blepharophimosis [MedDRA:10005155]
Blepharophimosis (36%) [OMIM:Blepharophimosis (36%)]
Blepharophimosis (in 1 family) [OMIM:Blepharophimosis (in 1 family)]
Blepharophimosis (in some patients) [OMIM:Blepharophimosis (in some patients)]
Blepharophimosis (uncommon) [OMIM:Blepharophimosis (uncommon)]
Narrow palpebral fissures (9 of 22) [OMIM:Narrow palpebral fissures (9 of 22)]
Narrow palpebral fissures (in some patients) [OMIM:Narrow palpebral fissures (in some patients)]
Narrowed palpebral fissures [OMIM:Narrowed palpebral fissures]
Short palpebral fissure (male) [OMIM:Short palpebral fissure (male)]
Short palpebral fissures (1 patient) [OMIM:Short palpebral fissures (1 patient)]
Short palpebral fissures (2 patients) [OMIM:Short palpebral fissures (2 patients)]
Short palpebral fissures (in 1/4 patients) [OMIM:Short palpebral fissures (in 1/4 patients)]
Short palpebral fissures (in some patients) [OMIM:Short palpebral fissures (in some patients)]
Quality:
Cross references:
Orphanet:7150 "Blepharophimosis/short palpebral fissures" [Orphanet:7150]
OMIM: "Blepharophimosis" [OMIM:Blepharophimosis]
OMIM: "Narrow palpebral fissures" [OMIM:Narrow palpebral fissures]
OMIM: "Short palpebral fissure" [OMIM:Short palpebral fissure]
OMIM: "Short palpebral fissures" [OMIM:Short palpebral fissures]
OMIM: "short palpebral fissures" [OMIM:short palpebral fissures]
OMIM: "Blepharophimosis (36%)" [OMIM:Blepharophimosis (36%)]
OMIM: "Blepharophimosis (in 1 family)" [OMIM:Blepharophimosis (in 1 family)]
OMIM: "Blepharophimosis (in some patients)" [OMIM:Blepharophimosis (in some patients)]
OMIM: "Blepharophimosis (uncommon)" [OMIM:Blepharophimosis (uncommon)]
OMIM: "Narrow palpebral fissures (9 of 22)" [OMIM:Narrow palpebral fissures (9 of 22)]
OMIM: "Narrow palpebral fissures (in some patients)" [OMIM:Narrow palpebral fissures (in some patients)]
OMIM: "Narrowed palpebral fissures" [OMIM:Narrowed palpebral fissures]
OMIM: "Short palpebral fissure (male)" [OMIM:Short palpebral fissure (male)]
OMIM: "Short palpebral fissures (1 patient)" [OMIM:Short palpebral fissures (1 patient)]
OMIM: "Short palpebral fissures (2 patients)" [OMIM:Short palpebral fissures (2 patients)]
OMIM: "Short palpebral fissures (in 1/4 patients)" [OMIM:Short palpebral fissures (in 1/4 patients)]
OMIM: "Short palpebral fissures (in some patients)" [OMIM:Short palpebral fissures (in some patients)]
UMLS:C0005744 "Blepharophimosis" [HPO:0000581]
UMLS:C0423112 "Short palpebral fissure" [Orphanet:7150]
UMLS:C0005744 "Blepharophimosis" [Orphanet:7150]
Is a (Direct Parents):
MedDRA Lid, lash and lacrimal structural disorders
HPO         Abnormal size of the palpebral fissures
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormality of the periorbital region(HPO:0000606)
                   Abnormality of the eyelid(HPO:0000492)
                      Abnormality of the palpebral fissures(HPO:0008050)
                         Abnormal size of the palpebral fissures(HPO:0200007)
                            Blepharophimosis(HPO:0000581)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of the eyelid(HPO:0000492)
                      Abnormality of the palpebral fissures(HPO:0008050)
                         Abnormal size of the palpebral fissures(HPO:0200007)
                            Blepharophimosis(HPO:0000581)
MedDRA:
Eye disorders(MedDRA:10015919)
    Anterior eye structural change, deposit and degeneration(MedDRA:10002693)
       Lid, lash and lacrimal structural disorders(MedDRA:10024446)
          Blepharophimosis(HPO:0000581)
Database Frequency: 197 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
14q12 microdeletion syndrome (Orphanet:261144)
1p36 deletion syndrome (Orphanet:1606)
22q11.2 deletion syndrome (Orphanet:567)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q31.1 microdeletion syndrome (Orphanet:251014)
3MC SYNDROME 1 (OMIM:257920)
3MC SYNDROME 2 (OMIM:265050)
3MC SYNDROME 3 (OMIM:248340)
3q29 microduplication (Orphanet:251038)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
5p13 microduplication syndrome (Orphanet:329802)
6q16 deletion syndrome (Orphanet:171829)
8p11.2 deletion syndrome (Orphanet:251066)
8q12 microduplication syndrome (Orphanet:228399)
8q21.11 microdeletion syndrome (Orphanet:284160)
8q22.1 microdeletion syndrome (Orphanet:178303)
ADAMS-OLIVER SYNDROME 3 (OMIM:614814)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-ocular syndrome (Orphanet:959)
Acromegaloid facial appearance syndrome (Orphanet:965)
Aniridia (Orphanet:77)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Anophthalmia plus syndrome (Orphanet:1104)
Arterial tortuosity syndrome (Orphanet:3342)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Ascher syndrome (Orphanet:1253)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Autosomal recessive omodysplasia (Orphanet:93329)
BRACHYMESOMELIA-RENAL SYNDROME (OMIM:113470)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Blepharonasofacial malformation syndrome (Orphanet:1252)
Blepharophimosis - epicanthus inversus - ptosis (Orphanet:126)
Blepharophimosis - ptosis - esotropia - syndactyly - short stature (Orphanet:2057)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, SBBYS type (Orphanet:3047)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Braddock syndrome (Orphanet:52047)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
COFS syndrome (Orphanet:1466)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Cabezas syndrome (Orphanet:85293)
Campomelic dysplasia (Orphanet:140)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cataract - aberrant oral frenula - growth delay (Orphanet:1373)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-reno-digital syndrome (Orphanet:1396)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Cholestasis - pigmentary retinopathy - cleft palate (Orphanet:1415)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Cleft palate-lateral synechia syndrome (Orphanet:2016)
Conductive deafness - ptosis - skeletal anomalies (Orphanet:3236)
Cranioectodermal dysplasia 2 (OMIM:613610)
Craniofacial-deafness-hand syndrome (Orphanet:1529)
Craniofacial-ulnar-renal syndrome (Orphanet:293843)
Craniomicromelic syndrome (Orphanet:1524)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Curry-Jones syndrome (Orphanet:1553)
DIGEORGE SYNDROME (OMIM:188400)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Delayed speech - facial asymmetry - strabismus - ear lobe creases (Orphanet:3038)
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type (Orphanet:363444)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal monosomy 15q (Orphanet:1596)
Distal monosomy 3p (Orphanet:1620)
Distal trisomy 15q (Orphanet:1707)
Distal trisomy 6p (Orphanet:1745)
Duane retraction syndrome (Orphanet:233)
Dubowitz syndrome (Orphanet:235)
ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA (OMIM:601348)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1 (OMIM:129900)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 (OMIM:604292)
EEC syndrome (Orphanet:1896)
Ear-patella-short stature syndrome (Orphanet:2554)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
FEINGOLD SYNDROME 1 (OMIM:164280)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FETAL AKINESIA SYNDROME, X-LINKED (OMIM:300073)
FRONTOFACIONASAL DYSPLASIA (OMIM:229400)
FRONTOOCULAR SYNDROME (OMIM:605321)
Familial lambdoid synostosis (Orphanet:3267)
Fanconi anemia (Orphanet:84)
Feingold syndrome (Orphanet:1305)
Fetal akinesia deformation sequence (Orphanet:994)
Flat face - microstomia - ear anomaly (Orphanet:1968)
Freeman-Sheldon syndrome (Orphanet:2053)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Fryns syndrome (Orphanet:2059)
GCS1-CDG (Orphanet:79330)
Geleophysic dysplasia (Orphanet:2623)
Goldenhar syndrome (Orphanet:374)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
HYPERTELORISM AND TETRALOGY OF FALLOT (OMIM:239711)
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES (OMIM:609943)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Shashi type (Orphanet:85286)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
KAGAMI-OGATA SYNDROME (OMIM:608149)
Koolen-De Vries syndrome (Orphanet:96169)
Leri pleonosteosis (Orphanet:2900)
Lethal restrictive dermopathy (Orphanet:1662)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES (OMIM:606772)
MENTAL RETARDATION, X-LINKED 92 (OMIM:300851)
MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
MMEP syndrome (Orphanet:3434)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Marden-Walker syndrome (Orphanet:2461)
Matthew-Wood syndrome (Orphanet:2470)
McDonough syndrome (Orphanet:2471)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microphthalmia with limb anomalies (Orphanet:1106)
Monosomy 18q (Orphanet:1600)
Monosomy 9p (Orphanet:261112)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Mosaic trisomy 14 (Orphanet:1703)
Myhre syndrome (Orphanet:2588)
Native American myopathy (Orphanet:168572)
Neonatal hemochromatosis (Orphanet:446)
Neuralgic amyotrophy (Orphanet:2901)
Non-distal trisomy 10q (Orphanet:1695)
OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Osteocraniostenosis (Orphanet:2763)
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES (OMIM:602249)
PYCR1-related DeBarsy syndrome (Orphanet:293633)
Pelvis-shoulder dysplasia (Orphanet:2839)
Pelviscapular dysplasia (Orphanet:93333)
Peters-plus syndrome (Orphanet:709)
Pfeiffer-Palm-Teller syndrome (Orphanet:2871)
Progressive hemifacial atrophy (Orphanet:1214)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
RAPADILINO syndrome (Orphanet:3021)
Roifman syndrome (Orphanet:353298)
SECKEL SYNDROME 1 (OMIM:210600)
SIMOSA CRANIOFACIAL SYNDROME (OMIM:182150)
Scalp-ear-nipple syndrome (Orphanet:2036)
Schilbach-Rott syndrome (Orphanet:2353)
Schwartz-Jampel syndrome (Orphanet:800)
Seckel syndrome (Orphanet:808)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Stüve-Wiedemann syndrome (Orphanet:3206)
TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
TRISOMY 18-LIKE SYNDROME (OMIM:601161)
Teebi-Shaltout syndrome (Orphanet:3291)
Toluene embryopathy (Orphanet:1920)
Toriello-Carey syndrome (Orphanet:3338)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Townes-Brocks syndrome (Orphanet:857)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Triopia (Orphanet:3374)
Trisomy 17p (Orphanet:261290)
Trisomy 18 (Orphanet:3380)
Trisomy 20p (Orphanet:261318)
Trisomy 4p (Orphanet:1738)
Trisomy Xq28 (Orphanet:1762)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Van den Ende-Gupta syndrome (Orphanet:2460)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
Waardenburg syndrome (Orphanet:3440)
Waardenburg syndrome type 1 (Orphanet:894)
Waardenburg syndrome type 3 (Orphanet:896)
Wiedemann-Steiner syndrome (Orphanet:319182)
Williams syndrome (Orphanet:904)
Yunis-Varon syndrome (Orphanet:3472)
Zechi-Ceide syndrome (Orphanet:217017)