Short philtrum

Symptom Information:

Symptom ID: HPO:0000322
Synonyms:
Short philtrum [OMIM:Short philtrum]
Short philtrum [Orphanet:9560]
Philtrum short [OMIM:Philtrum short]
Short philtrum (4 patients) [OMIM:Short philtrum (4 patients)]
Short philtrum (female) [OMIM:Short philtrum (female)]
Short philtrum (rare) [OMIM:Short philtrum (rare)]
Quality:
Cross references:
Orphanet:9560 "Short philtrum" [Orphanet:9560]
OMIM: "Short philtrum" [OMIM:Short philtrum]
OMIM: "Philtrum short" [OMIM:Philtrum short]
OMIM: "Short philtrum (4 patients)" [OMIM:Short philtrum (4 patients)]
OMIM: "Short philtrum (female)" [OMIM:Short philtrum (female)]
OMIM: "Short philtrum (rare)" [OMIM:Short philtrum (rare)]
Is a (Direct Parents):
HPO         Abnormality of the philtrum
Orphanet Abnormality of the mouth
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 mouth(HPO:0000153)
                   Abnormality of the philtrum(HPO:0000288)
                      Short philtrum(HPO:0000322)
MedDRA:
Database Frequency: 130 / 7739
Resource:

All diseases associated with this symptom:

15q14 microdeletion syndrome (Orphanet:261190)
17q21.31 microduplication syndrome (Orphanet:217340)
22q11.2 deletion syndrome (Orphanet:567)
3q13 microdeletion syndrome (Orphanet:1621)
3q29 microdeletion syndrome (Orphanet:65286)
4q21 microdeletion syndrome (Orphanet:238750)
5p13 microduplication syndrome (Orphanet:329802)
5q14.3 microdeletion syndrome (Orphanet:228384)
8q21.11 microdeletion syndrome (Orphanet:284160)
AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrocallosal syndrome (Orphanet:36)
Acrocraniofacial dysostosis (Orphanet:949)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Aicardi syndrome (Orphanet:50)
Alagille syndrome (Orphanet:52)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Axenfeld-Rieger syndrome (Orphanet:782)
BNAR syndrome (Orphanet:217266)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Cenani-Lenz syndrome (Orphanet:3258)
Char syndrome (Orphanet:46627)
Charlie M syndrome (Orphanet:1406)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Coffin-Siris syndrome (Orphanet:1465)
Cohen syndrome (Orphanet:193)
Cooks syndrome (Orphanet:1487)
Craniofacial dyssynostosis (Orphanet:1516)
DIGEORGE SYNDROME (OMIM:188400)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Deafness-craniofacial syndrome (Orphanet:3241)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Disorder of sex development - intellectual deficit (Orphanet:2983)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 19p13.3 (Orphanet:96129)
Distal monosomy 6p (Orphanet:96125)
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES (OMIM:609944)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 (OMIM:615859)
Epidermolysis bullosa simplex with anodontia/hypodontia (Orphanet:2325)
Facial ectodermal dysplasia (Orphanet:1807)
Filippi syndrome (Orphanet:3255)
Floating-Harbor syndrome (Orphanet:2044)
Fried syndrome (Orphanet:85335)
Fryns-Smeets-Thiry syndrome (Orphanet:2058)
GMS syndrome (Orphanet:2090)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
HOLOPROSENCEPHALY 9 (OMIM:610829)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES (OMIM:609943)
Hennekam syndrome (Orphanet:2136)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit, Birk-Barel type (Orphanet:166108)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked - cubitus valgus - dysmorphism (Orphanet:85280)
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration (Orphanet:85317)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Joubert syndrome 14 (OMIM:614424)
KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Late-onset localized junctional epidermolysis bullosa - intellectual deficit (Orphanet:231556)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 (OMIM:615074)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 (OMIM:615866)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY (OMIM:601347)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Marshall-Smith syndrome (Orphanet:561)
McDonough syndrome (Orphanet:2471)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty (Orphanet:2504)
Micro syndrome (Orphanet:2510)
Microcephalic primordial dwarfism, Alazami type (Orphanet:319671)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monosomy 18q (Orphanet:1600)
Monosomy 5p (Orphanet:281)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple synostoses syndrome (Orphanet:3237)
Myhre syndrome (Orphanet:2588)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Odontotrichomelic syndrome (Orphanet:2723)
Oliver syndrome (Orphanet:2920)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Osteocraniostenosis (Orphanet:2763)
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES (OMIM:602249)
Paternal 20q13.2q13.3 microdeletion syndrome (Orphanet:261304)
Pfeiffer syndrome (Orphanet:710)
Pitt-Hopkins syndrome (Orphanet:2896)
Polyvalvular heart disease syndrome (Orphanet:228410)
Potocki-Shaffer syndrome (Orphanet:52022)
Pseudoprogeria syndrome (Orphanet:2985)
Renpenning syndrome (Orphanet:3242)
Rothmund-Thomson syndrome (Orphanet:2909)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES (OMIM:600093)
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia (Orphanet:94066)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Shoulder and girdle defects - familial intellectual deficit (Orphanet:2580)
Smith-Magenis syndrome (Orphanet:819)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
TEMPLE SYNDROME (OMIM:616222)
Tetraploidy (Orphanet:3305)
Transaldolase deficiency (Orphanet:101028)
Trisomy 20p (Orphanet:261318)
Van Regemorter-Pierquin-Vamos syndrome (Orphanet:3419)
W syndrome (Orphanet:2804)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
Yunis-Varon syndrome (Orphanet:3472)
Zunich-Kaye syndrome (Orphanet:3474)