Rare diseases · Sign or symptom
Pointed chin
Pointy chin
HP:0000307
What it means
A marked tapering of the lower face to the chin.
The two rami of the mandible meet at an acute angle.
Rare diseases that can present with this44
Very common80–99%
10- 1p36deletion syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Branchioskeletogenital syndrome
- Distal duplication 6p syndrome
- Familial osteodysplasia, Anderson type
- Harrod syndrome
- Isolated megalencephaly
- Wiedemann-Rautenstrauch syndrome
- Williams syndrome
- Zellweger-like syndrome without peroxisomal anomalies
Common30–79%
23- 16q24.3microdeletion syndrome
- 3M syndrome
- Alagille syndrome
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Autosomal recessive multiple pterygium syndrome
- Barth syndrome
- Brachymorphism-onychodysplasia-dysphalangism syndrome
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
- Deafness-epiphyseal dysplasia-short stature syndrome
- Deafness with labyrinthine aplasia, microtia, and microdontia
- Distal 22q11.2 microdeletion syndrome
- Focal dermal hypoplasia
- Focal facial dermal dysplasia type I
- Gabriele-de Vries syndrome
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Non-progressive cerebellar ataxia with intellectual disability
- Phelan-McDermid syndrome
- Ring chromosome 22 syndrome
- Silver-Russell syndrome due to 7p11.2p13 microduplication
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
Sometimes5–29%
9- Donohue syndrome
- Goldberg-Shprintzen megacolon syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- Malan overgrowth syndrome
- MAN1B1-CDG
- Microcephaly-chorioretinopathy-lymphedema syndrome
- Spondylometaphyseal dysplasia, 'corner fracture' type
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
and 1 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: Pointed mention region · Small pointed chin · Witch's chin
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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.