Rare diseases · Sign or symptom
Abnormal palate morphology
Abnormality of the palate
HP:0000174
What it means
Any abnormality of the palate, i.e., of roof of the mouth.
Rare diseases that can present with this65
Very common80–99%
26- Acrofacial dysostosis, Catania type
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- Cataract-hypertrichosis-intellectual disability syndrome
- Congenital velopharyngeal incompetence
- Cortical blindness-intellectual disability-polydactyly syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniosynostosis-anal anomalies-porokeratosis syndrome
- Deafness-craniofacial syndrome
- Endocardial fibroelastosis
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Intellectual disability-polydactyly-uncombable hair syndrome
- Menkes disease
- Microcephalic primordial dwarfism, Montreal type
- Neonatal adrenoleukodystrophy
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Oculocerebral hypopigmentation syndrome, Cross type
- PEHO syndrome
- Pitt-Hopkins syndrome
- Radioulnar synostosis-developmental delay-hypotonia syndrome
- Ring chromosome 8 syndrome
- Thin ribs-tubular bones-dysmorphism syndrome
- Trisomy 4p syndrome
- Ullrich congenital muscular dystrophy
- White forelock with malformations
Common30–79%
21- 15q11.2microdeletion syndrome
- Abruzzo-Erickson syndrome
- Ataxia-deafness-intellectual disability syndrome
- Brachydactyly-preaxial hallux varus syndrome
- Cartilage-hair hypoplasia
- Conductive deafness-ptosis-skeletal anomalies syndrome
- Dislocation of the hip-dysmorphism syndrome
- GAPO syndrome
- Grant syndrome
- Hypospadias-intellectual disability, Goldblatt type syndrome
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Jackson-Weiss syndrome
- McDonough syndrome
- Microcephaly-deafness-intellectual disability syndrome
- Nager syndrome
- Oculofaciocardiodental syndrome
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- Toriello-Carey syndrome
- Trisomy 20p syndrome
Sometimes5–29%
18- 15q24microdeletion syndrome
- 6p22microdeletion syndrome
- Arthrogryposis multiplex congenita-whistling face syndrome
- Autosomal recessive Robinow syndrome
- Bilateral parasagittal parieto-occipital polymicrogyria
- Burn-McKeown syndrome
- Crouzon syndrome-acanthosis nigricans syndrome
- Familial tumoral calcinosis
and 10 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: Abnormality of the roof of the mouth · Palatal anomaly · Palate abnormality
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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.