Rare diseases · Sign or symptom
Abnormality of the dentition
Abnormal dentition
HP:0000164
What it means
Any abnormality of the teeth.
Any abnormality of the primary (deciduous) or permanent teeth.
Rare diseases that can present with this188
Very common80–99%
52- 4H leukodystrophy
- Acrofacial dysostosis, Catania type
- Acrofacial dysostosis, Weyers type
- ADULT syndrome
- Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- Atkin-Flaitz syndrome
- Autosomal dominant hypohidrotic ectodermal dysplasia
- Autosomal recessive distal osteolysis syndrome
- Autosomal recessive Robinow syndrome
- Bangstad syndrome
- Böök syndrome
- Branchioskeletogenital syndrome
- CHIME syndrome
- Cleidocranial dysplasia
- Cohen syndrome
- Cranioectodermal dysplasia
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Deafness-enamel hypoplasia-nail defects syndrome
- Deafness-intellectual disability syndrome, Martin-Probst type
- Ectodermal dysplasia-blindness syndrome
- Ellis-Van Creveld syndrome
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Freeman-Sheldon syndrome
- Fused mandibular incisors
- Gorlin-Chaudhry-Moss syndrome
- Grubben-de Cock-Borghgraef syndrome
- Hallermann-Streiff syndrome
- Hypertrichosis lanuginosa congenita
- Hypodontia-dysplasia of nails syndrome
- Hypophosphatasia
- Johanson-Blizzard syndrome
- Juvenile Paget disease
- Lacrimoauriculodentodigital syndrome
- Legg-Calvé-Perthes disease
- Marshall syndrome
- Mucopolysaccharidosis type 4
- Nance-Horan syndrome
- Oculofaciocardiodental syndrome
- Odontomicronychial dysplasia
- Papillon-Lefèvre syndrome
- Radioulnar synostosis-microcephaly-scoliosis syndrome
- Recombinant 8 syndrome
- Rhizomelic chondrodysplasia punctata
- Sagliker syndrome
- SATB2-associated syndrome due to a pathogenic variant
- Short stature-valvular heart disease-characteristic facies syndrome
- Skeletal dysplasia-epilepsy-short stature syndrome
- Smith-Magenis syndrome
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- Tricho-retino-dento-digital syndrome
- Trisomy 4p syndrome
- Xeroderma pigmentosum
Common30–79%
28- 10q22.3q23.3microduplication syndrome
- 17q21.31microduplication syndrome
- 22q11.2deletion syndrome
- 2q23.1microduplication syndrome
- 3q29microduplication syndrome
- 8q22.1microdeletion syndrome
- Acromegaly
- Albers-Schönberg osteopetrosis
- Andersen-Tawil syndrome
- Anonychia-microcephaly syndrome
- Aspartylglucosaminuria
- Ataxia-photosensitivity-short stature syndrome
- Autosomal dominant deafness-onychodystrophy syndrome
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Beta-thalassemia major
- Cherubism
- Cleft lip/palate-ectodermal dysplasia syndrome
- Cockayne syndrome type 1
- Costello syndrome
- Craniofrontonasal dysplasia
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- CTCF-related neurodevelopmental disorder
- Deafness-craniofacial syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Dermatosparaxis Ehlers-Danlos syndrome
- Distal deletion 15q syndrome
- Distal deletion 6p syndrome
- Distal deletion 9p 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, and Orphanet separately records 3 diseases 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: Abnormal teeth · Abnormality of the teeth · Dental abnormalities · Dental abnormality · Dental anomalies · Dental problem · Dental problems · Tooth abnormalities
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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.