Short philtrum
Symptom Information:
Symptom ID: | HPO:0000322 | ||||||
Synonyms: |
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Quality: | |||||||
Cross references: |
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Is a (Direct Parents): |
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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: |
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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) |