Short nose
Symptom Information:
Symptom ID: | HPO:0003196 | ||||||||||||
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 nose(HPO:0000366) Abnormal nasal morphology(HPO:0005105) Short nose(HPO:0003196) MedDRA: |
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Database Frequency: | 264 / 7739 | ||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
14q12 microdeletion syndrome | (Orphanet:261144) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
16p13.11 microdeletion syndrome | (Orphanet:261236) |
16p13.3 microduplication syndrome | (Orphanet:96078) |
17p13.3 microduplication syndrome | (Orphanet:217385) |
17q21.31 microduplication syndrome | (Orphanet:217340) |
3C syndrome | (Orphanet:7) |
3q29 microdeletion syndrome | (Orphanet:65286) |
3q29 microduplication | (Orphanet:251038) |
5q14.3 microdeletion syndrome | (Orphanet:228384) |
8q22.1 microdeletion syndrome | (Orphanet:178303) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:614613) |
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES | (OMIM:300887) |
ARTHROGRYPOSIS, DISTAL, TYPE 2A | (OMIM:193700) |
Achondrogenesis | (Orphanet:932) |
Achondrogenesis type 1A | (Orphanet:93299) |
Achondrogenesis type 1B | (Orphanet:93298) |
Achondrogenesis type 2 | (Orphanet:93296) |
Acrocallosal syndrome | (Orphanet:36) |
Acrocephalopolydactyly | (Orphanet:221054) |
Acrodysostosis | (Orphanet:950) |
Acrofacial dysostosis, Catania type | (Orphanet:1786) |
Acromesomelic dysplasia, Maroteaux type | (Orphanet:40) |
Acromicric dysplasia | (Orphanet:969) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Antley-Bixler syndrome | (Orphanet:83) |
Arachnodactyly - abnormal ossification - intellectual deficit | (Orphanet:1129) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Arthrogryposis multiplex congenita | (Orphanet:1037) |
Aspartylglucosaminuria | (Orphanet:93) |
Atelosteogenesis type I | (Orphanet:1190) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal dominant omodysplasia | (Orphanet:93328) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive cutis laxa type 2 | (Orphanet:90350) |
Autosomal recessive cutis laxa type 2, classic type | (Orphanet:357074) |
Autosomal recessive cutis laxa type 2A | (Orphanet:357058) |
Autosomal recessive facio-digito-genital syndrome | (Orphanet:1974) |
Autosomal recessive omodysplasia | (Orphanet:93329) |
Axial spondylometaphyseal dysplasia | (Orphanet:168549) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Bartsocas-Papas syndrome | (Orphanet:1234) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Bloom syndrome | (Orphanet:125) |
Brachytelephalangic chondrodysplasia punctata | (Orphanet:79345) |
Brachytelephalangy - dysmorphism - Kallmann syndrome | (Orphanet:1295) |
C syndrome | (Orphanet:1308) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE | (OMIM:302950) |
CHROMOSOME 1p32-p31 DELETION SYNDROME | (OMIM:613735) |
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | (OMIM:613603) |
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED | (OMIM:613544) |
CODAS syndrome | (Orphanet:1458) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG | (OMIM:218649) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Cataract - aberrant oral frenula - growth delay | (Orphanet:1373) |
Cenani-Lenz syndrome | (Orphanet:3258) |
Central diabetes insipidus | (Orphanet:178029) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cerebro-oculo-nasal syndrome | (Orphanet:66625) |
Cerebro-reno-digital syndrome | (Orphanet:1396) |
Choanal atresia - deafness - cardiac defects - dysmorphism | (Orphanet:1200) |
Chondrodysplasia with joint dislocations, gPAPP type | (Orphanet:280586) |
Cleft palate - short stature - vertebral anomalies | (Orphanet:2015) |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | (Orphanet:329178) |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency | (Orphanet:300284) |
Cornelia de Lange syndrome | (Orphanet:199) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Cortical blindness - intellectual deficit - polydactyly | (Orphanet:1389) |
Craniofacial-deafness-hand syndrome | (Orphanet:1529) |
Craniofaciofrontodigital syndrome | (Orphanet:363705) |
Craniomicromelic syndrome | (Orphanet:1524) |
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis | (Orphanet:171839) |
Craniosynostosis, Herrmann-Opitz type | (Orphanet:2145) |
Cutis laxa | (Orphanet:209) |
DEND syndrome | (Orphanet:79134) |
DESBUQUOIS DYSPLASIA 1 | (OMIM:251450) |
Desbuquois syndrome | (Orphanet:1425) |
Desmosterolosis | (Orphanet:35107) |
Diaphanospondylodysostosis | (Orphanet:66637) |
Disorder of sex development - intellectual deficit | (Orphanet:2983) |
Distal monosomy 9p | (Orphanet:1642) |
Distal trisomy 18q | (Orphanet:1716) |
Donnai-Barrow syndrome | (Orphanet:2143) |
Down syndrome | (Orphanet:870) |
Dysmorphism - short stature - deafness - disorder of sex development | (Orphanet:2282) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Edinburgh malformation syndrome | (Orphanet:1895) |
Embryofetopathy due to oral anticoagulant therapy | (Orphanet:1914) |
Encephalopathy due to sulfite oxidase deficiency | (Orphanet:833) |
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS | (OMIM:227255) |
FIBROCHONDROGENESIS 1 | (OMIM:228520) |
FIBROCHONDROGENESIS 2 | (OMIM:614524) |
FRONTOFACIONASAL DYSPLASIA | (OMIM:229400) |
Familial lambdoid synostosis | (Orphanet:3267) |
Femoral-facial syndrome | (Orphanet:1988) |
Fetal Gaucher disease | (Orphanet:85212) |
Fetal alcohol syndrome | (Orphanet:1915) |
Fetal hydantoin syndrome | (Orphanet:1912) |
Fetal trimethadione syndrome | (Orphanet:1913) |
Fetal valproate syndrome | (Orphanet:1906) |
Fibrochondrogenesis | (Orphanet:2021) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Fronto-facio-nasal dysostosis | (Orphanet:1791) |
GELEOPHYSIC DYSPLASIA 1 | (OMIM:231050) |
GELEOPHYSIC DYSPLASIA 2 | (OMIM:614185) |
GMS syndrome | (Orphanet:2090) |
Geleophysic dysplasia | (Orphanet:2623) |
Goldblatt syndrome | (Orphanet:166272) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
HELSMOORTEL-VAN DER AA SYNDROME | (OMIM:615873) |
HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION | (OMIM:613870) |
HOLOPROSENCEPHALY 7 | (OMIM:610828) |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 | (OMIM:614749) |
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED | (OMIM:241800) |
Heart defect - round face - congenital developmental delay | (Orphanet:1355) |
Hepatic fibrosis - renal cysts - intellectual deficit | (Orphanet:2031) |
Hereditary combined deficiency of vitamin K-dependent clotting factors | (Orphanet:98434) |
Hypertelorism, Teebi type | (Orphanet:1519) |
Hypomandibular faciocranial dysostosis | (Orphanet:1790) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
ICF syndrome | (Orphanet:2268) |
IMAGe syndrome | (Orphanet:85173) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 | (OMIM:614069) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Intellectual deficit - balding - patella luxation - acromicria | (Orphanet:3041) |
Intellectual deficit - hypoplastic corpus callosum - preauricular tag | (Orphanet:1495) |
Intellectual deficit, X-linked, Cantagrel type | (Orphanet:85277) |
Jacobsen syndrome | (Orphanet:2308) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Kleefstra syndrome | (Orphanet:261494) |
Kleefstra syndrome due to 9q34 microdeletion | (Orphanet:96147) |
Large congenital melanocytic nevus | (Orphanet:626) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Lathosterolosis | (Orphanet:46059) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lethal restrictive dermopathy | (Orphanet:1662) |
Low birth weight - dwarfism - dysgammaglobulinemia | (Orphanet:2621) |
Lowry-MacLean syndrome | (Orphanet:2409) |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES | (OMIM:613670) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 | (OMIM:615866) |
MENTAL RETARDATION, X-LINKED 21 | (OMIM:300143) |
MENTAL RETARDATION, X-LINKED 30 | (OMIM:300558) |
MENTAL RETARDATION, X-LINKED 91 | (OMIM:300577) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MOVED TO 614732 | (OMIM:300290) |
Macrocephaly - spastic paraplegia - dysmorphism | (Orphanet:2429) |
Macrocephaly-autism syndrome | (Orphanet:210548) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibuloacral dysplasia with type B lipodystrophy | (Orphanet:90154) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Marshall syndrome | (Orphanet:560) |
Marshall-Smith syndrome | (Orphanet:561) |
Maxillo-nasal dysplasia | (Orphanet:1248) |
Meckel syndrome, type 8 | (OMIM:613885) |
Micro syndrome | (Orphanet:2510) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microlissencephaly - micromelia | (Orphanet:50810) |
Microphthalmia - microtia - fetal akinesia | (Orphanet:2547) |
Microphthalmia with limb anomalies | (Orphanet:1106) |
Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
Mietens syndrome | (Orphanet:2557) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial myopathy and sideroblastic anemia | (Orphanet:2598) |
Monosomy 9p | (Orphanet:261112) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
NOONAN SYNDROME 3 | (OMIM:609942) |
Neurogenic arthrogryposis multiplex congenita | (Orphanet:1143) |
Non-distal trisomy 10q | (Orphanet:1695) |
Non-distal trisomy 13q | (Orphanet:1702) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Okamoto syndrome | (Orphanet:2729) |
Opsismodysplasia | (Orphanet:2746) |
Orofaciodigital syndrome type 4 | (Orphanet:2753) |
Osteocraniostenosis | (Orphanet:2763) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Otopalatodigital syndrome type 1 | (Orphanet:90650) |
PEHO syndrome | (Orphanet:2836) |
PEHO-like syndrome | (Orphanet:99807) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 | (OMIM:613038) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | (OMIM:615803) |
PTERYGIUM COLLI, ISOLATED | (OMIM:177990) |
Pallister-Hall syndrome | (Orphanet:672) |
Patent arterial duct | (Orphanet:706) |
Pectus excavatum - macrocephaly - dysplastic nails | (Orphanet:2835) |
Perlman syndrome | (Orphanet:2849) |
Permanent neonatal diabetes mellitus | (Orphanet:99885) |
Peters-plus syndrome | (Orphanet:709) |
Pfeiffer syndrome | (Orphanet:710) |
Pfeiffer syndrome type 1 | (Orphanet:93258) |
Pfeiffer syndrome type 2 | (Orphanet:93259) |
Pfeiffer syndrome type 3 | (Orphanet:93260) |
Phocomelia, Schinzel type | (Orphanet:2879) |
Potocki-Shaffer syndrome | (Orphanet:52022) |
Prolidase deficiency | (Orphanet:742) |
Prominent glabella - microcephaly - hypogenitalism | (Orphanet:2083) |
Pseudoprogeria syndrome | (Orphanet:2985) |
RENAL AND MULLERIAN DUCT HYPOPLASIA | (OMIM:266810) |
RHINY | (OMIM:180360) |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | (OMIM:616331) |
Renal-genital-middle ear anomalies | (Orphanet:1092) |
Rhizomelic dysplasia, Patterson-Lowry type | (Orphanet:2831) |
Ring chromosome 8 | (Orphanet:1450) |
Robinow-like syndrome | (Orphanet:3105) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Ruvalcaba syndrome | (Orphanet:3121) |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL | (OMIM:602613) |
SPONASTRIME dysplasia | (Orphanet:93357) |
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | (OMIM:613320) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Simpson-Golabi-Behmel syndrome type 2 | (Orphanet:79022) |
Smith-Magenis syndrome | (Orphanet:819) |
Solitary median maxillary central incisor syndrome | (Orphanet:2286) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spondylocarpotarsal synostosis | (Orphanet:3275) |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
Spondyloepimetaphyseal dysplasia with multiple dislocations | (Orphanet:93360) |
Stickler syndrome | (Orphanet:828) |
Stickler syndrome type 1 | (Orphanet:90653) |
Stüve-Wiedemann syndrome | (Orphanet:3206) |
Subaortic stenosis - short stature | (Orphanet:3191) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | (Orphanet:308386) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | (Orphanet:308393) |
TMCO1 defect syndrome | (Orphanet:228407) |
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 | (OMIM:234050) |
Tetrasomy 12p | (Orphanet:884) |
Tetrasomy 18p | (Orphanet:3307) |
Toluene embryopathy | (Orphanet:1920) |
Toriello-Carey syndrome | (Orphanet:3338) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
Tricho-oculo-dermo-vertebral syndrome | (Orphanet:3354) |
Trisomy 12p | (Orphanet:1699) |
Trisomy 18 | (Orphanet:3380) |
Trisomy 20p | (Orphanet:261318) |
VERHEIJ SYNDROME | (OMIM:615583) |
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | (OMIM:277450) |
WARBURG MICRO SYNDROME 2 | (OMIM:614225) |
WARBURG MICRO SYNDROME 3 | (OMIM:614222) |
Waardenburg syndrome type 1 | (Orphanet:894) |
Williams syndrome | (Orphanet:904) |
X-linked distal arthrogryposis multiplex congenita | (Orphanet:1145) |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |
X-linked hypohidrotic ectodermal dysplasia | (Orphanet:181) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |