Rare diseases · Sign or symptom
Coarse facial features
Coarse facial appearance
HP:0000280
What it means
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Rare diseases that can present with this142
Very common80–99%
59- 15q overgrowth syndrome
- 49,XYYYY syndrome
- Acromegaly
- Alpha-mannosidosis
- Athyreosis
- Atkin-Flaitz syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Borjeson-Forssman-Lehmann syndrome
- Cantú syndrome
- Cardiofaciocutaneous syndrome
- Cerebello-oculo-facio-genital syndrome
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- Craniodiaphyseal dysplasia
- Craniofaciofrontodigital syndrome
- Epilepsy-microcephaly-skeletal dysplasia syndrome
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Fountain syndrome
- Frank-Ter Haar syndrome
- Fucosidosis
- Galactosialidosis
- Genitopatellar syndrome
- GM1 gangliosidosis
- Hurler-Scheie syndrome
- Hurler syndrome
- Infantile systemic hyalinosis
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Juvenile sialidosis type 2
- Kleefstra syndrome
- Koolen-De Vries syndrome
- Leukocyte adhesion deficiency type II
- Microlissencephaly-micromelia syndrome
- Microtriplication 11q24.1 syndrome
- Mucolipidosis type II
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 2
- Mucopolysaccharidosis type 6
- Mucopolysaccharidosis type 7
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Pitt-Hopkins syndrome
- Pituitary gigantism
- Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
- RIN2 syndrome
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- Sialidosis type 1
- Sialidosis type 2
- Sialuria
- Simpson-Golabi-Behmel syndrome
- Somatomammotropinoma
- Sotos syndrome
- Tetrasomy 5p syndrome
- Thyroid ectopia
- Thyroid hemiagenesis
- Thyroid hypoplasia
- Williams syndrome
- X-linked intellectual disability, Shashi type
- X small rings syndrome
Common30–79%
20- 20q11.2microduplication syndrome
- 21q22.11q22.12microdeletion syndrome
- 2q23.1microdeletion syndrome
- Alagille syndrome
- Alpha-mannosidosis, infantile form
- Alpha-N-acetylgalactosaminidase deficiency
- Alpha-N-acetylgalactosaminidase deficiency type 2
- Aspartylglucosaminuria
- Beckwith-Wiedemann syndrome
- Blepharophimosis-intellectual disability syndrome, MKB type
- Congenital amegakaryocytic thrombocytopenia
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
- Congenital sialidosis type 2
- Corpus callosum agenesis-abnormal genitalia syndrome
- Distal deletion 15q syndrome
- DOORS syndrome
- Dyggve-Melchior-Clausen disease
- Fabry disease
- Fried syndrome
- Frontometaphyseal dysplasia
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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Coarse face · Coarse facies · Rounded and heavy facial features · Thickened facial skin with coarse facial features
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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.