Rare diseases · Sign or symptom
Hypoplasia of the maxilla
Decreased size of maxilla
HP:0000327
What it means
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Rare diseases that can present with this64
Very common80–99%
23- Acrodysostosis
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Apert syndrome
- Autosomal recessive distal osteolysis syndrome
- Brachytelephalangic chondrodysplasia punctata
- Branchioskeletogenital syndrome
- Cohen syndrome
- Craniofacial-deafness-hand syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniolenticulosutural dysplasia
- Distal deletion 19p syndrome
- Distal limb deficiencies-micrognathia syndrome
- Distal Xq28 microduplication syndrome
- KDM5C-related syndromic X-linked intellectual disability
- Mandibulofacial dysostosis-microcephaly syndrome
- Maxillonasal dysplasia
- Microphthalmia with limb anomalies
- Myhre syndrome
- Nager syndrome
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- Stickler syndrome
- Stickler syndrome type 1
- Treacher-Collins syndrome
Common30–79%
26- 20p12.3microdeletion syndrome
- 8q22.1microdeletion syndrome
- Ablepharon macrostomia syndrome
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Coffin-Lowry syndrome
- Crouzon syndrome
- Crouzon syndrome-acanthosis nigricans syndrome
- Ear-patella-short stature syndrome
- Focal dermal hypoplasia
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- Frontorhiny
- Gorlin-Chaudhry-Moss syndrome
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
- Jackson-Weiss syndrome
- Keipert syndrome
- Lujan-Fryns syndrome
- Marshall syndrome
- Nasopalpebral lipoma-coloboma syndrome
- PDE4D haploinsufficiency syndrome
- Pycnodysostosis
- PYCR2-related microcephaly-progressive leukoencephalopathy
- Shprintzen-Goldberg syndrome
- Soft and hard cleft palate
- X-linked intellectual disability, Porteous type
- X-linked intellectual disability, Sutherland-Haan type
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: Decreased projection of maxilla · Decreased projection of upper jaw · Decreased size of upper jaw · Deficiency of upper jaw bones · Hypoplasia of upper jaw bones · Hypoplastic maxillary bones · Hypotrophic maxilla · Hypotrophic upper jaw bones
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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.