Macroglossia

Symptom Information:

Symptom ID: HPO:0000158
Synonyms:
Hyperplasia of the tongue [HPO:0000158]
Hypertrophy of the tongue [HPO:0000158]
Large tongue [HPO:0000158]
Tongue hypertrophy [HPO:0000158]
Large tongue [Orphanet:10070]
Enlargement of tongue (disorder) [Orphanet:10070]
Congenital macroglossia (disorder) [Orphanet:10070]
Congenital macroglossia [Orphanet:10070]
Macroglossia [Orphanet:10070]
Large tongue [OMIM:Large tongue]
Macroglossia [OMIM:Macroglossia]
Tongue hypertrophy [OMIM:Tongue hypertrophy]
Macroglossia/tongue protrusion/proeminent/hypertrophic [Orphanet:10070]
Macroglossia [MedDRA:10025391]
Congenital macroglossia [MedDRA:10025391]
Macroglossia (MEB) [OMIM:Macroglossia (MEB)]
Macroglossia (not always present) [OMIM:Macroglossia (not always present)]
Macroglossia (untreated hypothyroidism) [OMIM:Macroglossia (untreated hypothyroidism)]
Thick tongue [IBIS,cm]
Quality:
Cross references:
Orphanet:10070 "Macroglossia/tongue protrusion/proeminent/hypertrophic" [Orphanet:10070]
OMIM: "Large tongue" [OMIM:Large tongue]
OMIM: "Macroglossia" [OMIM:Macroglossia]
OMIM: "Tongue hypertrophy" [OMIM:Tongue hypertrophy]
OMIM: "Macroglossia (MEB)" [OMIM:Macroglossia (MEB)]
OMIM: "Macroglossia (not always present)" [OMIM:Macroglossia (not always present)]
OMIM: "Macroglossia (untreated hypothyroidism)" [OMIM:Macroglossia (untreated hypothyroidism)]
UMLS:C0009677 "Macroglossia" [HPO:0000158]
UMLS:C0009677 "Congenital macroglossia" [Orphanet:10070]
UMLS:C0024421 "Macroglossia" [Orphanet:10070]
Is a (Direct Parents):
Orphanet Abnormality of the tongue
HPO         Triangular tongue
HPO         Abnormality of the tongue
MedDRA Tongue disorders
HPO         Skeletal muscle hypertrophy
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Skeletal muscle hypertrophy(HPO:0003712)
                Macroglossia(HPO:0000158)
       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 oral cavity(HPO:0000163)
                      Abnormality of the tongue(HPO:0000157)
                         Macroglossia(HPO:0000158)
MedDRA:
Gastrointestinal disorders(MedDRA:10017947)
    Tongue conditions(MedDRA:10043946)
       Tongue disorders(MedDRA:10043954)
          Macroglossia(HPO:0000158)
Database Frequency: 119 / 7739
Resource:

All diseases associated with this symptom:

14q12 microdeletion syndrome (Orphanet:261144)
AL amyloidosis (Orphanet:85443)
Acquired hypertrichosis lanuginosa (Orphanet:2221)
Acromegaloid facial appearance syndrome (Orphanet:965)
Acromegaly (Orphanet:963)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Angelman syndrome (Orphanet:72)
Aspartylglucosaminuria (Orphanet:93)
Athyreosis (Orphanet:95713)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive limb-girdle muscular dystrophy type 2C (Orphanet:353)
Autosomal recessive limb-girdle muscular dystrophy type 2E (Orphanet:119)
Autosomal recessive limb-girdle muscular dystrophy type 2I (Orphanet:34515)
Bardet-Biedl syndrome 7 (OMIM:615984)
Beckwith-Wiedemann syndrome (Orphanet:116)
Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127)
Beckwith-Wiedemann syndrome due to 11p15 microduplication (Orphanet:96076)
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion (Orphanet:231130)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (Orphanet:231117)
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 (Orphanet:96193)
CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
CANDLE syndrome (Orphanet:325004)
Cabezas syndrome (Orphanet:85293)
Central congenital hypothyroidism (Orphanet:226298)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Congenital hypothyroidism (Orphanet:442)
Congenital hypothyroidism due to developmental anomaly (Orphanet:95711)
Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies (Orphanet:95715)
Congenital macroglossia (Orphanet:2430)
Congenital muscular dystrophy with cerebellar involvement (Orphanet:370959)
Costello syndrome (Orphanet:3071)
Cowden syndrome (Orphanet:201)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Down syndrome (Orphanet:870)
Dysostosis, Stanescu type (Orphanet:1798)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (OMIM:227250)
Familial thyroid dyshormonogenesis (Orphanet:95716)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (Orphanet:439854)
Fucosidosis (Orphanet:349)
GM1 gangliosidosis (Orphanet:354)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to acid maltase deficiency, infantile onset (Orphanet:308552)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hypothyroidism due to TSH receptor mutations (Orphanet:90673)
ICF syndrome (Orphanet:2268)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 (OMIM:242860)
Idiopathic congenital hypothyroidism (Orphanet:95717)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Isolated thyroid-stimulating hormone deficiency (Orphanet:90674)
JMP syndrome (Orphanet:324999)
Joubert syndrome (Orphanet:475)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Leukocyte adhesion deficiency (Orphanet:2968)
Lhermitte-Duclos disease (Orphanet:65285)
Lipoid proteinosis (Orphanet:530)
MITOCHONDRIAL MYOPATHY (OMIM:251900)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 (OMIM:613155)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 (OMIM:608840)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Marshall-Smith syndrome (Orphanet:561)
Melkersson-Rosenthal syndrome (Orphanet:2483)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (Orphanet:254864)
Mucolipidosis type 2 (Orphanet:576)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mulibrey nanism (Orphanet:2576)
Muscular pseudohypertrophy - hypothyroidism (Orphanet:2349)
Nakajo-Nishimura syndrome (Orphanet:2615)
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Peripheral hypothyroidism (Orphanet:226310)
Peripheral resistance to thyroid hormones (Orphanet:97927)
Permanent congenital hypothyroidism (Orphanet:226292)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Primary congenital hypothyroidism (Orphanet:226295)
Primary congenital hypothyroidism without thyroid developmental anomaly (Orphanet:95714)
Proteasome disability syndrome (Orphanet:324977)
Resistance to thyrotropin-releasing hormone syndrome (Orphanet:99832)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
Sandhoff disease (Orphanet:796)
Sandhoff disease, adult form (Orphanet:309169)
Sandhoff disease, infantile form (Orphanet:309155)
Sandhoff disease, juvenile form (Orphanet:309162)
Scheie syndrome (Orphanet:93474)
Schinzel-Giedion syndrome (Orphanet:798)
Short rib-polydactyly syndrome (Orphanet:1505)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Smith-Magenis syndrome (Orphanet:819)
Stickler syndrome (Orphanet:828)
TENORIO SYNDROME (OMIM:616260)
THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Tetrasomy 12p (Orphanet:884)
Thyroid ectopia (Orphanet:95712)
Thyroid hemiagenesis (Orphanet:95719)
Thyroid hypoplasia (Orphanet:95720)
Transient congenital hypothyroidism (Orphanet:178045)
Trichodermal syndrome - intellectual deficit (Orphanet:3360)
Triploidy (Orphanet:3376)
Trisomy 17p (Orphanet:261290)
Williams syndrome (Orphanet:904)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Zellweger syndrome (Orphanet:912)
Zimmermann-Laband syndrome (Orphanet:3473)
[DEL] GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)