Rare diseases · Sign or symptom
Macroglossia
Abnormally large tongue
HP:0000158
What it means
Increased length and width of the tongue.
Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue.
Rare diseases that can present with this89
Very common80–99%
17- Acromegaly
- Alpha-mannosidosis
- Athyreosis
- Congenital macroglossia
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Developmental malformations-deafness-dystonia syndrome
- Intellectual disability-seizures-macrocephaly-obesity syndrome
- Lhermitte-Duclos disease
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Paternal uniparental disomy of chromosome 6 syndrome
- Simpson-Golabi-Behmel syndrome
- Somatomammotropinoma
- Thyroid ectopia
- Thyroid hemiagenesis
- Thyroid hypoplasia
- Williams syndrome
- X-linked intellectual disability, Golabi-Ito-Hall type
Common30–79%
38- Acquired hypertrichosis lanuginosa
- Aspartylglucosaminuria
- Autosomal spastic paraplegia type 18
- Beckwith-Wiedemann syndrome
- Congenital hypothyroidism due to maternal intake of antithyroid drugs
- Congenital infiltrating lipomatosis of the face
- Congenital muscular dystrophy with cerebellar involvement
- Costello syndrome
- Cowden syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Down syndrome
- Dystonia-aphonia syndrome
- FOXG1 syndrome due to 14q12 microdeletion
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- GM1 gangliosidosis
- Hurler syndrome
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Isolated thyroid-stimulating hormone deficiency
- ISPD-related limb-girdle muscular dystrophy R20
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Kleefstra syndrome
- Kleefstra syndrome due to 9q34 microdeletion
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Lethal recessive chondrodysplasia
- Melkersson-Rosenthal syndrome
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Mucopolysaccharidosis type 2
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Pellagra
- Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- Schinzel-Giedion syndrome
- Stickler syndrome
- Transient neonatal diabetes mellitus
- Triploidy syndrome
- X-linked alpha-thalassemia-intellectual disability syndrome
Sometimes5–29%
25- 19p13.13microdeletion syndrome
- ALG6-CDG
- ALG8-CDG
- Alpha-mannosidosis, adult form
- Alpha-mannosidosis, infantile form
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Congenital generalized lipodystrophy
- Craniofaciofrontodigital syndrome
and 17 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Glossal hypertrophy · Hyperplasia of the tongue · Hypertrophy of the tongue · Increased size of tongue · Large tongue · Lingual hyperplasia · Lingual hypertrophy · Tongue hypertrophy
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.