Rare diseases · Sign or symptom
Prominent forehead
Pronounced forehead
HP:0011220
What it means
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Not to be confused with frontal bossing.
Rare diseases that can present with this107
Very common80–99%
27- 19p13.13microdeletion syndrome
- 49,XXXYY syndrome
- 8p inverted duplication/deletion syndrome
- AICA-ribosiduria
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- Cerebrooculonasal syndrome
- Cortical blindness-intellectual disability-polydactyly syndrome
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- Craniometadiaphyseal dysplasia, wormian bone type
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- De Barsy syndrome
- Distal deletion 1q syndrome
- Encephalopathy due to sulfite oxidase deficiency
- Fetal trimethadione syndrome
- FOXP1 Syndrome
- Fucosidosis
- Larsen syndrome
- Marshall-Smith syndrome
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- Microphthalmia with limb anomalies
- Neurofaciodigitorenal syndrome
- Opitz GBBB syndrome
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- Sialuria
- Silver-Russell syndrome
- Silver-Russell syndrome due to a point mutation
- W syndrome
Common30–79%
41- 20p13microdeletion syndrome
- Acrodysostosis
- Acromesomelic dysplasia, Maroteaux type
- Amniotic band syndrome
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Autosomal dominant Kenny-Caffey syndrome
- Autosomal dominant Robinow syndrome
- Cardiocranial syndrome, Pfeiffer type
- Cartilage-hair hypoplasia
- CDKL5-deficiency disorder
- Coffin-Lowry syndrome
- Filippi syndrome
- Intellectual disability-strabismus syndrome
- Laron syndrome with immunodeficiency
- Malan overgrowth syndrome
- Maternal uniparental disomy of chromosome 20 syndrome
- Menke-Hennekam syndrome
- Microgastria-limb reduction defect syndrome
- Mosaic trisomy 3 syndrome
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- Non-acquired isolated growth hormone deficiency
- Osteopathia striata-cranial sclerosis syndrome
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- Pallister-Killian syndrome
- Peters plus syndrome
- Platyspondylic dysplasia, Torrance type
- PMM2-CDG
- Ramos-Arroyo syndrome
- SATB2-associated syndrome due to a chromosomal rearrangement
- Short stature-brachydactyly-obesity-global developmental delay syndrome
- Silver-Russell syndrome due to an imprinting defect of 11p15
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- Sotos syndrome
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- SPECC1L-related hypertelorism syndrome
- Temple syndrome due to paternal 14q32.2 hypomethylation
- Temple syndrome due to paternal 14q32.2 microdeletion
- Trichohepatoenteric syndrome
- Trisomy 10p syndrome
- X-linked intellectual disability-plagiocephaly syndrome
- Zechi-Ceide syndrome
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: Bulging forehead · Prominence of frontal region · Protruding forehead
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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.